P11166

PR
Gene name
SLC2A1
Protein name
Solute carrier family 2, facilitated glucose transporter member 1
Names
Glucose transporter type 1, erythrocyte/brain, GLUT-1, HepG2 glucose transporter
Species
Homo sapiens (Human)
KEGG Pathway
hsa:6513
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

436-492 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

6 structures for P11166

Entry ID Method Resolution Chain Position Source
4PYP X-ray 317 A A 1-492 PDB
5EQG X-ray 290 A A 1-492 PDB
5EQH X-ray 299 A A 1-492 PDB
5EQI X-ray 300 A A 1-492 PDB
6THA X-ray 240 A A 1-492 PDB
AF-P11166-F1 Predicted AlphaFoldDB

512 variants for P11166

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001249305
rs1553157935
RCV000578988
RCV002529042
 1 M>T GLUT1 deficiency syndrome 1, autosomal recessive GLUT1 deficiency syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001731941
rs1570601100
RCV000812775
CA339964905
 9 T>M GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1333609390
RCV003141711
CA10590134
RCV000707535
 11 R>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1570601060
RCV000986293
 16 V>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
CA339964867
RCV000648083
rs1553156841
 16 V>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA339964861
RCV000502046
rs1345986424
 17 G>* GLUT1 deficiency syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA339964860
rs1553156840
RCV000531748
 17 G>E GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000733447
rs1345986424
CA339964863
RCV001855780
 17 G>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1557651202
CA339964846
RCV000694163
 19 A>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1570601051
RCV000820367
 20 V>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs1165759782
RCV000820791
CA339964816
RCV001507439
 25 Q>K GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000705848
CA339964771
rs1557651185
 31 G>E GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000147518
CA018969
rs587784390
 34 N>D Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000030921
VAR_054755
CA018991
rs80359812
 34 N>I Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000824820
CA339964750
rs1570601007
 34 N>K Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_054756
RCV000995645
CA339964752
RCV001268517
RCV000819798
rs80359812
RCV002501134
 34 N>S GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Hereditary cryohydrocytosis with reduced stomatin GLUT1DS1; 55% of wild-type glucose uptake activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_065206 34 N>Y GLUT1DS1 [UniProt] Yes UniProt
rs796053245
RCV002517016
CA318417
RCV000189347
 35 A>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA339964740
RCV000850198
rs1570600997
 36 P>L Intellectual disability [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000189348
RCV001096623
CA318419
RCV000819050
rs748082803
RCV001098347
 42 E>A GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA803607
RCV001300895
rs375881934
 44 Y>H GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1249135503
RCV001228286
CA339962559
 45 N>D GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000705361
rs754791604
RCV001759415
CA803606
 46 Q>E GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001711485
RCV001096621
RCV001096622
CA318421
RCV000865433
rs149998596
 46 Q>H GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 (dyt9) Dystonia 9 [ClinVar, Ensembl] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001226075
rs1643485738
 47 T>A GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
CA10581792
rs878854904
RCV000228194
 49 V>F GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV002504382
RCV001322048
RCV001266485
COSM1342756
CA803603
rs201815571
VAR_076226
 51 R>H Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive large_intestine Hereditary cryohydrocytosis with reduced stomatin Inborn genetic diseases EIG12; unknown pathological significance [NCI-TCGA, ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA339962418
rs201815571
RCV000533560
 51 R>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs796053246
RCV000189350
CA318423
RCV001038415
 53 G>V GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA803602
RCV001096619
RCV002315969
RCV001096620
RCV000648090
rs765479065
 58 P>S GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000476048
RCV000593978
CA803599
VAR_076227
COSM236574
rs142986731
 60 T>M GLUT1 deficiency syndrome 1, autosomal recessive autonomic_ganglia EIG12; unknown pathological significance; decreased glucose transport [ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001316126
rs1643485004
 62 T>I GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV002523299
RCV000763915
rs200828053
RCV000476696
RCV001580496
CA803597
 63 T>M GLUT1 deficiency syndrome 1, autosomal recessive Hereditary cryohydrocytosis with reduced stomatin Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA21252454
VAR_013283
rs80359813
 66 S>F GLUT1DS1 [UniProt] Yes ClinGen
UniProt
Ensembl
dbSNP
RCV001759518
RCV000799246
CA339962024
rs1570593865
 68 S>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001046931
rs1643484773
 69 V>M GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001270785
rs1643484697
 73 S>F Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinVar
dbSNP
rs1553156199
RCV000539168
 77 M>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001246954
rs1643484447
 77 M>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs1187210267
CA339961831
VAR_076228
 77 M>T EIG12; decreased glucose transport [UniProt] Yes ClinGen
UniProt
dbSNP
gnomAD
rs1643484465
RCV001204666
 79 G>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001266277
rs1643484307
 86 F>missing Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
rs1643484242
RCV001218614
 87 V>I GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs80359814
RCV000017490
CA019112
VAR_013182
 91 G>D Encephalopathy due to GLUT1 deficiency GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000986292
rs1570593820
 92 R>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
rs779073410
RCV001349830
 92 R>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000426262
rs202060209
VAR_069077
RCV000017499
RCV002243647
RCV000705009
RCV000850197
CA019118
RCV001843456
 92 R>W Intellectual disability GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Developmental disorder Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA21252168
RCV001387742
rs80359815
RCV002249465
RCV000761655
 93 R>Q GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA019133
VAR_065207
rs267607061
RCV000648074
RCV001291641
RCV000030922
RCV000442654
RCV001548750
 93 R>W GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
CA339961448
rs1553156175
RCV000531950
 94 N>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA019143
rs267607060
RCV000017496
VAR_065208
 95 S>I Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001257676
rs1643481930
 96 M>missing Intellectual disability [ClinVar] Yes ClinVar
dbSNP
RCV001449666
RCV001051269
rs1643481875
 96 M>T GLUT1 deficiency syndrome 1, autosomal recessive Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinVar
dbSNP
rs753161833
RCV000648089
RCV001532534
VAR_065209
CA803565
 96 M>V GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; 0.0002433 impact. GLUT1DS1 [ClinVar, NCI-TCGA, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
rs1643481831
RCV001255171
 98 M>missing Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinVar
dbSNP
RCV000792319
COSM909705
CA339961378
rs1211054711
 99 M>V GLUT1 deficiency syndrome 1, autosomal recessive endometrium [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
RCV000735239
rs1557646673
 100 N>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000805606
rs1570593621
 102 L>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
CA803560
RCV000480070
rs76672402
RCV000662334
RCV001711886
RCV002321974
RCV000864633
RCV000311944
RCV000350448
 104 F>L GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Inborn genetic diseases Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000494313
CA339961288
rs577667739
RCV002527078
 105 V>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000394308
RCV001721221
RCV000346798
rs577667739
COSM1667492
RCV000468529
CA318425
 105 V>M GLUT1 deficiency syndrome 1, autosomal recessive large_intestine Encephalopathy due to GLUT1 deficiency Dystonia 9 [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA803556
rs74323945
RCV000730291
RCV001855633
 108 V>M GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001102022
RCV001100034
CA339961190
rs1399284513
 111 G>V Encephalopathy due to GLUT1 deficiency Dystonia 9 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs774348625
RCV001221728
CA803555
RCV002316104
 113 S>L GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001253108
rs1643480923
RCV001255340
 114 K>missing Intellectual disability Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
rs1643480570
RCV001233741
 125 G>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000030838
RCV000017498
RCV000030839
RCV000824987
VAR_054757
RCV000081431
CA019162
rs80359818
RCV000546969
 126 R>C GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 (dyt9) Dystonia 9 Hereditary cryohydrocytosis with reduced stomatin Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
RCV002288508
RCV001387741
VAR_013183
rs80359816
RCV000081432
CA019167
RCV000017491
 126 R>H GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002271987
rs80359816
VAR_013184
RCV000017489
CA019172
 126 R>L GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency GLUT1DS1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000704712
CA803547
RCV002360818
rs751907207
 129 I>M GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs80359819
RCV000770978
RCV001869075
CA21252051
RCV002305536
VAR_054758
 130 G>S GLUT1 deficiency syndrome 1, autosomal recessive GLUT1 deficiency syndrome GLUT1DS1; 75% of wild-type glucose uptake activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA21252047
RCV003163632
RCV001214071
rs987202561
RCV002287482
 131 V>A Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs1570593449
RCV000799264
 131 V>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001214425
rs1643480228
 133 C>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
CA16043369
rs1057518953
RCV000415325
RCV000458446
 134 G>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000648085
CA339960777
rs1057517822
 140 V>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1057517822
RCV000414747
CA16042396
RCV001850982
 140 V>M GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs1570593475
RCV000800135
 142 M>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
CA21252032
VAR_013284
rs80359820
 146 E>K GLUT1DS1 [UniProt] Yes ClinGen
UniProt
Ensembl
dbSNP
rs1643479604
RCV001069131
 148 S>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
VAR_076229 149 P>A EIG12; unknown pathological significance [UniProt] Yes UniProt
VAR_054759 153 R>C GLUT1DS1; 44% of wild-type glucose uptake activity [UniProt] Yes UniProt
rs794727642
CA019189
RCV000178275
COSM3400787
VAR_065210
RCV001852209
 153 R>H GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. central_nervous_system GLUT1DS2 [ClinVar, NCI-TCGA, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV001253255
rs794727642
CA318491
RCV000189394
RCV001255335
 153 R>L Intellectual disability Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002265788
CA339960546
rs794727642
RCV000520301
 153 R>P Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_065211 155 A>V GLUT1DS1 [UniProt] Yes UniProt
rs1553156157
CA339960497
RCV000648076
 157 G>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000415305
rs1057518821
 158 T>missing Cerebellar ataxia [ClinVar] Yes ClinVar
dbSNP
RCV001039591
CA339960460
rs1472329184
 160 H>Y GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA339960441
rs1413339367
RCV000624807
RCV001091412
RCV001389445
 161 Q>* GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA339960438
RCV000648075
rs1553156154
 161 Q>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_065212
RCV001865327
CA16603717
RCV000429855
RCV002468576
rs1057520545
 165 V>I GLUT1 deficiency syndrome 1, autosomal recessive Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001253375
rs773339124
RCV001255358
 167 G>R Intellectual disability Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001851153
rs80359832
VAR_054760
RCV000478031
RCV002470868
 169 L>missing GLUT1 deficiency syndrome 1, autosomal recessive GLUT1DS1; 48% of wild-type glucose uptake activity Childhood onset GLUT1 deficiency syndrome 2 [ClinVar, UniProt] Yes ClinVar
UniProt
dbSNP
rs80359832
VAR_054760
 169 L>del GLUT1DS1; 48% of wild-type glucose uptake activity [UniProt] Yes UniProt
dbSNP
RCV001814283
rs1017082606
COSM3400784
CA21251974
RCV001215093
RCV001838656
 171 A>T GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. central_nervous_system Dystonia 9 [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001046838
rs1643471482
 174 F>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs1085308009
RCV000489014
RCV002298620
CA339958920
 175 G>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1643471410
RCV001337445
 176 L>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000815374
CA339958866
rs1570592960
 178 S>A GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1643471237
RCV001298353
 182 N>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs1570592942
CA339958710
RCV000806967
RCV002534834
 185 L>P GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA339958705
rs1570592933
RCV000801605
RCV000986291
 186 W>* GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1643471012
RCV001337709
 186 W>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001225131
rs1459390244
CA339958697
 187 P>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs878853161
RCV000224978
 192 I>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000795314
rs746393667
CA339958670
 192 I>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000648087
rs1553156090
 193 I>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001865350
rs1057521967
RCV000429681
CA16603691
 200 Q>* GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA21251449
rs1050933017
RCV001321659
RCV001028107
RCV001532532
 201 C>G GLUT1 deficiency syndrome 1, autosomal recessive Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs779779804
RCV001304146
CA803492
 202 I>M GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA339958604
RCV001071023
rs758200582
 203 V>M GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1643470058
RCV001299553
 206 F>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000986290
rs1570592844
 209 E>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001205552
rs1643470035
 209 E>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000986289
CA339958564
rs1387203768
 209 E>* Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001326291
RCV003135909
rs1387203768
CA339958565
RCV001267166
 209 E>K Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV000785926
rs1557646075
 209 E>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001365001
rs796053247
RCV000189354
CA318431
 211 P>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA019231
RCV000814788
RCV000255028
rs387907312
VAR_065213
RCV000030840
 212 R>C GLUT1 deficiency syndrome 1, autosomal recessive Dystonia 9 (dyt9) Dystonia 9 GLUT1DS1 and DYT9 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_065214
RCV000255929
rs886039517
CA10588297
RCV001390267
RCV001253348
 212 R>H GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency GLUT1DS1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1570592813
RCV001664443
RCV000821549
CA339958526
 215 L>F GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA019237
RCV000690814
rs147249343
RCV000723629
 218 R>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001098263
RCV001098262
RCV001266484
rs374080633
RCV000657887
RCV001079315
CA803486
 218 R>H GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_076230 218 R>S EIG12; decreased glucose transport [UniProt] Yes UniProt
rs1557646057
RCV000707556
CA339958475
 222 N>K GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs397514564
VAR_065215
RCV000032904
CA019242
 223 R>P Epilepsy, idiopathic generalized, susceptibility to, 12 Epilepsy, idiopathic generalized, susceptibility to, 12 (eig12) EIG12; mild phenotype; reduced transporter activity; impaired phosphorylation by PKC [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
RCV001546081
RCV001045125
rs397514564
CA803484
RCV002363593
VAR_076231
RCV001098259
 223 R>Q GLUT1 deficiency syndrome 1, autosomal recessive Epilepsy, idiopathic generalized, susceptibility to, 12 (eig12) Dystonia 9 Inborn genetic diseases EIG12; unknown pathological significance; no effect on glucose transport; impaired phosphorylation by PKC [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
RCV000546488
rs796053248
RCV000189355
RCV002288795
CA318433
VAR_065216
RCV000763337
 223 R>W GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Hereditary cryohydrocytosis with reduced stomatin GLUT1DS1; impaired phosphorylation by PKC [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
RCV001346218
rs1643467923
 230 K>N GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs387907313
CA019279
COSM909703
RCV000189356
RCV000030841
VAR_069078
RCV001063268
 232 R>C Epilepsy, idiopathic generalized, susceptibility to, 12 Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive large_intestine endometrium Epilepsy, idiopathic generalized, susceptibility to, 12 (eig12) EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
CA803465
RCV000761654
RCV001855704
rs139412383
COSM3689698
RCV001823005
 232 R>H Epilepsy, idiopathic generalized, susceptibility to, 12 Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive large_intestine [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000545154
CA803463
rs375853334
RCV002476181
 233 G>R GLUT1 deficiency syndrome 1, autosomal recessive Hereditary cryohydrocytosis with reduced stomatin [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000224228
rs794729221
RCV001333547
RCV000184042
CA019289
 242 Q>* Intellectual disability Encephalopathy due to GLUT1 deficiency Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_076232 243 E>V EIG12; decreased glucose transport [UniProt] Yes UniProt
RCV000578223
rs1553156069
 244 M>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV001251646
rs1064795363
 244 M>T Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
rs1570592604
RCV001542521
RCV001003570
RCV001049017
 246 E>missing Global developmental delay GLUT1 deficiency syndrome 1, autosomal recessive Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinVar
dbSNP
RCV001067060
RCV002390305
RCV001507438
RCV000147530
CA019296
rs587784395
 249 R>Q Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001950657
rs796053250
CA318436
 249 R>W GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000147531
CA019302
rs587784396
RCV000189359
 250 Q>* Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1643466842
RCV001337899
 254 E>K GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001096518
RCV001704070
RCV000147532
RCV002390306
RCV000805096
RCV001096519
rs5811
CA019308
 255 K>T GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA21251080
VAR_013185
rs121909738
 256 K>E GLUT1DS1 [UniProt] Yes ClinGen
UniProt
TOPMed
dbSNP
gnomAD
CA019315
RCV000017488
RCV000189388
rs80359822
RCV002271986
 256 K>V GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001326528
RCV000993977
rs1557645931
 256 K>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000704304
CA339957776
rs1557645921
 260 L>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1302959508
CA339957718
RCV003128772
RCV001281367
 263 F>L Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
CA019324
RCV002317055
rs766376173
RCV000467294
RCV000179465
 264 R>C GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000585350
rs758919432
CA803454
RCV001041007
 264 R>H GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000226026
CA803453
rs574211861
 266 P>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000805007
rs199639208
CA803451
RCV002261220
 267 A>T Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1553156058
RCV000648084
CA339957589
 267 A>V GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV001450120
CA318493
RCV001532531
rs200247956
 269 R>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1411827478
RCV001332779
RCV000823780
CA339957541
 269 R>H GLUT1 deficiency syndrome 1, autosomal recessive Dystonia 9 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001853647
RCV000624470
rs1553156053
RCV000521391
CA339957526
 270 Q>* GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1557645879
CA339957479
RCV001244532
 271 P>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001232005
rs1643465735
 272 I>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000147534
RCV001851890
VAR_054761
CA019335
rs121909740
RCV000189361
RCV000017494
 275 A>T GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
RCV000559813
CA339957303
rs1553156051
RCV003153721
 279 Q>* GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000498692
rs1553156047
 282 Q>missing Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinVar
dbSNP
CA16603718
RCV000432773
rs1057521066
RCV002524897
RCV002274028
 282 Q>* Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_054762 282 Q>del GLUT1DS2; accompanied by hemolytic anemia and altered erythrocyte ion concentrations; the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium [UniProt] Yes UniProt
rs587784397
RCV000147535
CA019340
RCV003137647
 283 Q>* Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_076233
RCV000202596
CA213395
RCV003221858
rs864309514
 286 G>D Hereditary cryohydrocytosis with reduced stomatin SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA339957167
RCV000850196
rs1431778557
RCV001003569
 287 I>L Intellectual disability Microcephaly [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs1643465264
RCV001297161
 288 N>I GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001205930
rs1643461834
 291 F>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
VAR_069079 292 Y>YY GLUT1DS1 [UniProt] Yes UniProt
rs1557645723
RCV001318582
 294 S>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs1557645723
CA339956925
RCV002318217
 294 S>F Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_065784 294 S>P GLUT1DS2 [UniProt] Yes UniProt
VAR_054763
CA277218
RCV002272166
RCV000189397
RCV000193872
rs80359823
RCV001380032
 295 T>M GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency GLUT1 deficiency syndrome GLUT1DS1; 75% of wild-type glucose uptake activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000363287
RCV001721222
RCV000463634
RCV000306227
rs148518827
CA318444
RCV002317646
 299 E>K GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001771998
RCV000703738
CA339956790
rs1425773776
 301 A>G GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1425773776
CA339956787
RCV001305693
RCV001779153
 301 A>V GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. Encephalopathy due to GLUT1 deficiency [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA339956762
RCV001351725
rs1205631854
VAR_065217
RCV000761653
 303 V>L GLUT1 deficiency syndrome 1, autosomal recessive found in a patient with GLUT1 deficiency syndrome [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
TOPMed
dbSNP
gnomAD
rs80359824
VAR_013285
CA21250649
RCV001089897
 310 T>I Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA211935
rs794727870
RCV000209836
 313 S>F Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000281833
rs886041590
RCV001855067
 314 G>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs121909739
CA019364
RCV000153967
RCV000473987
RCV002288509
RCV001253635
RCV000017493
VAR_054764
 314 G>S GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA318446
rs780528770
RCV000189365
RCV002444767
RCV001064748
 315 I>M GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs920394412
RCV001037132
CA21250594
RCV000585123
 316 V>I GLUT1 deficiency syndrome 1, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
NCI-TCGA
TOPMed
dbSNP
VAR_065218 317 N>T GLUT1DS2 [UniProt] Yes UniProt
rs746091725
RCV000513651
RCV001230574
CA803400
 318 T>M GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1060501354
RCV000470279
CA16610098
 322 V>A GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1643460170
RCV001325248
 323 V>A GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
CA803398
COSM3419240
RCV002379309
RCV000791499
RCV000439467
rs749426767
 323 V>M Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive large_intestine Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
VAR_065219
RCV000458906
CA318448
RCV001781556
rs796053253
RCV000189366
 324 S>L GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency GLUT1DS2; mild phenotype; reduced transporter activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_065220 329 E>Q GLUT1DS1; stabilizes the inward-open conformation [UniProt] Yes UniProt
rs1040371265
RCV001223859
CA21250211
 331 A>T GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1643457707
RCV001221345
 332 G>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000792856
VAR_065221
CA339956017
RCV001814181
rs1553155986
RCV001091411
RCV000517267
RCV002289706
 333 R>Q GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS1 and GLUT1DS2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002271990
CA019390
RCV001390266
RCV002312729
VAR_013286
RCV000763336
RCV000180300
rs80359825
RCV000500584
RCV002288787
 333 R>W GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Hereditary cryohydrocytosis with reduced stomatin Inborn genetic diseases GLUT1 deficiency syndrome Childhood onset GLUT1 deficiency syndrome 2 GLUT1DS1; 43% of wild-type glucose uptake activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000802557
CA21250202
RCV001507437
rs892715050
RCV000624225
 334 R>Q GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000147517
rs587784389
 336 L>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000660366
RCV000180302
CA018956
rs755946345
 336 L>V Epilepsy, idiopathic generalized, susceptibility to, 12 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA339955933
rs1553155982
RCV000655968
 337 H>L Childhood epilepsy with centrotemporal spikes [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000189370
CA018983
RCV002317061
RCV000724044
rs141619735
RCV000768319
RCV001781538
RCV000515255
RCV001079673
 339 I>T Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive Hereditary cryohydrocytosis with reduced stomatin Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000828444
RCV001858425
rs763241827
CA803367
 342 A>T Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1643457017
RCV001249689
 344 M>missing Hereditary cryohydrocytosis with reduced stomatin [ClinVar] Yes ClinVar
dbSNP
RCV000585705
rs1553155973
 345 A>missing Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
rs769943554
RCV000316012
RCV000648088
RCV002390506
RCV000372948
RCV000192772
CA205824
RCV000725496
 345 A>V GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Dystonia 9 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1643456790
RCV001321509
 348 A>T GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001060599
rs916926401
CA21250142
 350 L>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000509454
CA803361
RCV001764508
rs780529723
RCV001217353
 354 A>T GLUT1 deficiency syndrome 1, autosomal recessive Dystonia 9 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1643456257
RCV001044468
 355 L>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000147519
rs587784391
 362 P>* Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
RCV000804759
rs1570591031
CA339954420
 363 W>* GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA21249258
RCV000795449
rs976075779
 366 Y>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
CA318461
RCV000189374
RCV003114343
rs796053259
 370 V>A GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs751573593
RCV001049146
CA318459
RCV001705042
COSM3386171
RCV002252037
 370 V>M GLUT1 deficiency syndrome 1, autosomal recessive pancreas [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1338947760
RCV000690859
CA339954246
 371 A>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001240060
rs1643443081
 372 I>N GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV003147392
rs796053260
RCV000189375
CA318463
 376 V>M Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_065222 382 G>D GLUT1DS1 [UniProt] Yes UniProt
RCV001333545
rs1643442833
 383 P>S Dystonia 9 [ClinVar] Yes ClinVar
dbSNP
RCV000624680
CA339953989
rs1553155891
 385 P>L Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA318467
rs796053262
RCV000648080
 386 I>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001855651
rs764168088
RCV000731093
CA803330
RCV001265826
 391 V>M GLUT1 deficiency syndrome 1, autosomal recessive Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000648091
rs1553155887
 393 E>missing GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs1643442142
RCV001309039
 399 P>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000463311
rs796053263
RCV001267280
RCV000189378
CA318469
RCV003137767
 400 R>C GLUT1 deficiency syndrome 1, autosomal recessive Dystonia 9 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002347986
CA10602778
RCV000678305
RCV000364606
RCV000694332
rs776095655
 400 R>H GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs776095655
RCV000648086
CA803328
 400 R>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000995644
rs1570590905
 400 R>S Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinVar
dbSNP
rs1643441930
RCV001267666
 401 P>L SLC2A1-Related Disorders [ClinVar] Yes ClinVar
dbSNP
VAR_065223 405 A>D GLUT1DS1 [UniProt] Yes UniProt
rs148800393
CA318495
RCV000648102
 406 V>I GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002290466
rs1570590876
CA339953730
RCV000819910
 408 G>D GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001224070
rs398123069
CA019025
VAR_076234
RCV001588909
RCV000082869
 411 N>S Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive Epilepsy, idiopathic generalized, susceptibility to, 12 (eig12) EIG12; decreased glucose transport [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002318614
rs1557645002
CA339953697
 412 W>* Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1570590859
RCV000995643
CA339953701
 412 W>G Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs144389023
CA803323
RCV000812546
 417 I>T GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001218801
rs139722450
 419 G>D GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001267367
rs1643441134
 421 C>* Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
CA339953639
rs1557644984
RCV000684767
 421 C>R Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA339953632
rs1570590834
RCV002283514
RCV000808808
 422 F>L GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs587784392
RCV001204221
 423 Q>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV002517900
RCV000189379
CA318471
rs796053264
 424 Y>* GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs1643440876
RCV001227926
 426 E>* GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV000189399
RCV001208558
CA318497
rs796053274
 429 C>S GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs75485205
RCV000173823
CA019039
RCV002516600
 432 Y>* GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001348127
rs1643436553
 432 Y>C GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001003340
CA339953490
rs1570590528
 434 F>V Childhood onset GLUT1 deficiency syndrome 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000648081
CA339953472
rs1407189135
 435 I>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
VAR_076235 435 I>del SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage [UniProt] Yes UniProt
RCV000622580
RCV000202573
rs864309522
RCV001280695
 436 I>missing Hereditary cryohydrocytosis with reduced stomatin Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
RCV001233123
rs1643436127
 446 I>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs80359828
CA019048
RCV000017487
 449 Y>* Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1216296247
RCV002546597
RCV001332778
 450 F>I GLUT1 deficiency syndrome 1, autosomal recessive Dystonia 9 [ClinVar] Yes ClinVar
dbSNP
RCV000017486
CA019055
rs80359829
 456 K>* Encephalopathy due to GLUT1 deficiency [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000082868
RCV000423069
CA019067
rs13306758
RCV000762930
VAR_076236
RCV000701550
 458 R>W Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive Epilepsy, idiopathic generalized, susceptibility to, 12 (eig12) Hereditary cryohydrocytosis with reduced stomatin EIG12; decreased glucose transport [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000766834
RCV001049565
RCV000189380
rs138139624
CA318473
 466 G>S Variant assessed as Somatic; 0.0 impact. GLUT1 deficiency syndrome 1, autosomal recessive [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
dbSNP
gnomAD
RCV001548577
rs267607059
CA019072
RCV002271988
RCV000017500
VAR_069080
 468 R>W GLUT1 deficiency syndrome 1, autosomal recessive Encephalopathy due to GLUT1 deficiency GLUT1DS1 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002318155
rs1264369249
 469 Q>missing Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
CA16043367
RCV000415296
RCV003114532
RCV001770291
rs201748668
RCV001197510
 469 Q>H Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive Migraine [ClinVar] Yes ClinGen
ClinVar
1000Genomes
dbSNP
RCV000189381
RCV000189382
RCV000687947
CA318475
RCV000766835
CA318477
RCV000692340
rs572648977
 470 G>R GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000189383
rs572648977
CA318478
RCV001054891
 470 G>W GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001320328
rs955043564
CA21248757
 471 G>V GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs774241047
RCV001308097
CA803280
RCV000523437
 473 S>N GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001042387
CA803279
rs770901544
 475 S>N GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001037106
rs1643434594
 479 P>L GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
RCV001351933
rs749067830
RCV001563011
CA803278
 479 P>T GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA803277
rs756304012
RCV001373403
RCV000840858
 480 E>K GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000648077
rs748340730
CA318499
RCV000189400
 482 L>P GLUT1 deficiency syndrome 1, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001862694
VAR_065224
rs1159593580
RCV001091410
 485 P>L GLUT1 deficiency syndrome 1, autosomal recessive GLUT1DS1; creates a dileucine internalization motif that promotes recruitment of clathrin and mislocalization of the protein to endocytic compartments [ClinVar, UniProt] Yes ClinVar
dbSNP
UniProt
CA339965890
rs1271529267
 2 E>D No ClinGen
gnomAD
rs1232724729
CA339965888
 3 P>S No ClinGen
gnomAD
rs1335592731
CA339965880
 4 S>N No ClinGen
gnomAD
rs1295646319
CA339965876
 4 S>R No ClinGen
TOPMed
gnomAD
CA339965875
rs780680200
 5 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA803685
rs780680200
 5 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1326368803
CA339965873
 5 S>N No ClinGen
gnomAD
rs150921182
CA803638
 11 R>H No ClinGen
ESP
ExAC
gnomAD
CA803637
rs774411009
 13 M>V No ClinGen
ExAC
gnomAD
CA339964871
rs1288030829
 15 A>D No ClinGen
gnomAD
CA339964873
rs1393626431
 15 A>S No ClinGen
TOPMed
CA339964869
rs1553156841
 16 V>M No ClinGen
Ensembl
TCGA novel 17 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322852314
CA339964856
 18 G>* No ClinGen
gnomAD
RCV000175828
CA019329
rs794727283
 27 G>D No ClinGen
ClinVar
dbSNP
gnomAD
CA318489
rs796053273
 27 G>S No ClinGen
Ensembl
rs1186274140
CA339964779
 30 T>A No ClinGen
gnomAD
rs773791632
CA803635
 35 A>V No ClinGen
ExAC
gnomAD
rs770013950
CA803634
 37 Q>E No ClinGen
ExAC
gnomAD
rs770013950
CA339964738
 37 Q>K No ClinGen
ExAC
gnomAD
rs1467764389
CA339964729
 38 K>T No ClinGen
gnomAD
rs1570593965
CA339962675
 39 V>G No ClinGen
Ensembl
CA803608
rs769722007
 41 E>K No ClinGen
ExAC
gnomAD
CA803605
rs571371116
 47 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1231935211
CA339962452
 49 V>A No ClinGen
TOPMed
CA339962457
rs878854904
 49 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1643485509
RCV001310847
 52 Y>N No ClinVar
dbSNP
CA339962383
rs1235624366
 53 G>R No ClinGen
gnomAD
RCV000177260
CA019088
rs794727508
 55 S>T No ClinGen
ClinVar
Ensembl
dbSNP
RCV001008312
rs1570593893
 60 T>missing No ClinVar
dbSNP
rs142986731
RCV001091413
 60 T>R No ClinVar
dbSNP
RCV001008490
rs1570593881
 63 T>missing No ClinVar
dbSNP
rs1474108894
CA339962087
 65 W>C No ClinGen
TOPMed
TCGA novel 70 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000189385
rs796053266
 70 A>missing No ClinVar
dbSNP
RCV000192838
CA205940
rs776583130
 77 M>V No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA803591
rs768621727
 84 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA803590
rs746796254
 85 L>R No ClinGen
ExAC
gnomAD
rs961569873
CA21252395
 89 R>G No ClinGen
Ensembl
rs370031715
CA803589
 89 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779073410
CA803588
 92 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1053525817
CA339961387
 98 M>R No ClinGen
gnomAD
CA21252155
rs1053525817
 98 M>T No ClinGen
gnomAD
rs1211054711
CA339961373
 99 M>L No ClinGen
gnomAD
rs781571701
CA803564
 100 N>S No ClinGen
ExAC
gnomAD
CA339961331
rs1451513110
 102 L>V No ClinGen
gnomAD
rs1175342430
CA339961314
 103 A>D No ClinGen
TOPMed
rs755330447
CA803563
 103 A>S No ClinGen
ExAC
gnomAD
rs1570593595
RCV000993013
 106 S>missing No ClinVar
dbSNP
rs775307302
COSM167057
CA803557
 107 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1377462340
CA339961250
 107 A>V No ClinGen
Ensembl
CA339961231
rs1436569888
 109 L>F No ClinGen
gnomAD
TCGA novel 111 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA803551
rs769786931
 116 G>D No ClinGen
ExAC
gnomAD
rs777945822
CA803552
 116 G>S No ClinGen
ExAC
gnomAD
CA803550
rs748648403
 117 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA339961024
rs1172279073
 122 L>V No ClinGen
gnomAD
CA803549
rs781521534
 125 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA318427
RCV000189352
rs80359819
 130 G>R No ClinGen
ClinVar
Ensembl
dbSNP
rs113226716
CA21252045
 132 Y>H No ClinGen
Ensembl
rs1553156161
CA658656902
RCV000519895
 133 C>F No ClinGen
ClinVar
Ensembl
dbSNP
rs1570593487
RCV000993978
 137 T>missing No ClinVar
dbSNP
rs780519584
CA339960746
 142 M>L No ClinGen
gnomAD
rs780519584
CA21252033
 142 M>V No ClinGen
gnomAD
CA803544
rs760130033
 147 V>L No ClinGen
ExAC
gnomAD
CA339960612
rs1277225461
 149 P>H No ClinGen
gnomAD
rs752289598
CA803543
 150 T>A No ClinGen
ExAC
gnomAD
CA339960577
rs1351005021
 151 A>D No ClinGen
gnomAD
TCGA novel 157 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000503688
CA339960486
rs1553156155
 158 T>P No ClinGen
ClinVar
Ensembl
dbSNP
CA339960436
RCV000512938
rs1553156154
 161 Q>R No ClinGen
ClinVar
Ensembl
dbSNP
rs1085307483
RCV000489368
CA339960405
 163 G>S No ClinGen
ClinVar
Ensembl
dbSNP
rs770867924
CA803539
 166 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs773339124
CA803538
 167 G>S No ClinGen
ExAC
gnomAD
RCV000485695
rs1553156146
 172 Q>missing No ClinVar
dbSNP
rs1570592968
CA339958957
 173 V>G No ClinGen
Ensembl
CA339958848
rs1570592958
 179 I>V No ClinGen
Ensembl
RCV000189386
rs796053267
 180 M>missing No ClinVar
dbSNP
CA339958750
rs1557646134
 183 K>E No ClinGen
Ensembl
CA803497
rs746393667
 192 I>L No ClinGen
ExAC
gnomAD
rs1212331558
CA339958663
 193 I>V No ClinGen
gnomAD
TCGA novel 193 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368782332
CA21251480
 193 I>T No ClinGen
Ensembl
CA803496
rs774524003
 195 I>F No ClinGen
ExAC
gnomAD
CA803495
rs771352226
 196 P>L No ClinGen
ExAC
gnomAD
rs1381362306
CA339958634
 197 A>V No ClinGen
TOPMed
rs1324984353
CA339958621
 200 Q>R No ClinGen
TOPMed
CA21251447
rs921770589
 201 C>F No ClinGen
Ensembl
CA803490
rs758200582
 203 V>L No ClinGen
ExAC
gnomAD
rs1402428875
CA339958594
 205 P>A No ClinGen
gnomAD
rs1304291329
CA339958587
 206 F>L No ClinGen
gnomAD
TCGA novel 208 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1159263312
CA339958534
 213 F>L No ClinGen
gnomAD
rs374080633
CA803487
 218 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339958492
rs1257108581
 220 E>A No ClinGen
gnomAD
CA339958496
rs1448464718
 220 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 221 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21251395
rs934104576
 222 N>S No ClinGen
TOPMed
rs767600686
CA803483
 224 A>T No ClinGen
ExAC
gnomAD
CA339958460
rs1209468941
 225 K>N No ClinGen
gnomAD
CA339958455
rs1261396902
 226 S>R No ClinGen
TOPMed
gnomAD
rs1570592655
RCV001009153
 233 G>missing No ClinVar
dbSNP
CA339958210
rs1466673582
 235 A>V No ClinGen
gnomAD
rs796053249
CA318434
RCV000189357
 236 D>V No ClinGen
ClinVar
Ensembl
dbSNP
rs771662171
CA803461
 236 D>Y No ClinGen
ExAC
gnomAD
CA339958183
rs1387242348
 237 V>M Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1045642109
CA21251163
 239 H>R No ClinGen
TOPMed
gnomAD
CA339958080
rs1305932942
 244 M>L No ClinGen
gnomAD
CA16617146
rs1064795363
RCV000482535
 244 M>R No ClinGen
ClinVar
Ensembl
dbSNP
rs773788706
CA803460
 245 K>R No ClinGen
ExAC
gnomAD
CA21251131
rs80359821
RCV000494114
 247 E>D No ClinGen
ClinVar
Ensembl
dbSNP
rs749226083
CA803459
 251 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 251 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1013744464
CA21251114
 252 M>V No ClinGen
Ensembl
CA339957925
rs1451575059
 253 R>G No ClinGen
TOPMed
gnomAD
CA339957918
rs777498634
 253 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs777498634
CA803458
 253 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA339957924
rs1451575059
 253 R>W No ClinGen
TOPMed
gnomAD
rs1184570993
CA339957883
 255 K>N No ClinGen
gnomAD
rs5811
CA803457
 255 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA21251076
rs935400435
 256 K>M No ClinGen
TOPMed
gnomAD
CA803456
rs781458890
 256 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA339957875
rs935400435
 256 K>T No ClinGen
TOPMed
gnomAD
CA803455
rs755213963
 257 V>F No ClinGen
ExAC
rs1570592543
CA339957853
 257 V>G No ClinGen
Ensembl
rs200221625
CA21251033
 265 S>P No ClinGen
Ensembl
rs199639208
CA339957599
 267 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs121909740
CA339957376
 275 A>S No ClinGen
gnomAD
rs145079633
CA21250993
 276 V>M No ClinGen
ESP
RCV000189387
rs796053268
 277 V>missing No ClinVar
dbSNP
CA21250989
rs928228807
 277 V>L No ClinGen
TOPMed
rs796053251
CA318440
RCV000189362
 283 Q>R No ClinGen
ClinVar
Ensembl
dbSNP
CA339957164
rs1431778557
 287 I>V No ClinGen
TOPMed
TCGA novel 289 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000189363
RCV002252036
CA318442
rs796053252
 289 A>T No ClinGen
ClinVar
TOPMed
dbSNP
CA339956973
rs1570592186
 290 V>G No ClinGen
Ensembl
rs753156126
CA803408
 290 V>I No ClinGen
ExAC
gnomAD
RCV000483051
rs1064795152
 292 Y>missing No ClinVar
dbSNP
TCGA novel 296 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761764013
CA803405
 300 K>N No ClinGen
ExAC
gnomAD
CA803406
rs764743728
 300 K>T No ClinGen
ExAC
gnomAD
CA339956774
rs944584284
 302 G>A No ClinGen
gnomAD
CA21250704
rs944584284
 302 G>E No ClinGen
gnomAD
CA339956777
rs1228422579
 302 G>W No ClinGen
TOPMed
rs80359837
RCV000179917
RCV000478834
 303 V>missing No ClinVar
dbSNP
CA339956746
rs1570592136
 303 V>G No ClinGen
Ensembl
rs1253340181
CA339956681
 307 V>L No ClinGen
TOPMed
gnomAD
rs1253340181
CA339956685
 307 V>M No ClinGen
TOPMed
gnomAD
rs749844687
CA21250639
 311 I>T No ClinGen
Ensembl
RCV000329396
rs886041633
CA10602779
 313 S>P No ClinGen
ClinVar
Ensembl
dbSNP
CA019355
rs794727870
RCV000179922
 313 S>Y No ClinGen
ClinVar
Ensembl
dbSNP
rs1349205424
CA339956322
 322 V>L No ClinGen
gnomAD
rs886044287
RCV000341326
 324 S>missing No ClinVar
dbSNP
RCV000520273
rs1553156002
CA339956285
 324 S>P No ClinGen
ClinVar
Ensembl
dbSNP
rs747411639
CA339956146
 326 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA803374
rs747411639
 326 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs796053270
RCV000189390
 327 V>missing No ClinVar
dbSNP
rs80359838
RCV000180298
 327 V>missing No ClinVar
dbSNP
rs796053255
CA318451
RCV000189368
 328 V>L No ClinGen
ClinVar
Ensembl
dbSNP
rs80359826
COSM3689926
CA318438
 330 R>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs753278619
CA803371
 330 R>Q No ClinGen
ExAC
gnomAD
CA339956049
rs1225524483
 331 A>V No ClinGen
gnomAD
rs1363752047
CA339956030
 332 G>D No ClinGen
gnomAD
TCGA novel 334 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339955979
rs1318443924
 335 T>I No ClinGen
gnomAD
RCV000189391
rs796053271
 336 L>missing No ClinVar
dbSNP
CA803369
rs755946345
 336 L>M No ClinGen
ExAC
gnomAD
rs2229681
CA339955931
 337 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752703331
CA803368
 337 H>Y No ClinGen
ExAC
gnomAD
CA339955918
rs1386083305
 338 L>F No ClinGen
gnomAD
CA318453
RCV000189369
rs796053256
 339 I>V No ClinGen
ClinVar
Ensembl
dbSNP
rs886041981
RCV000372651
 340 G>missing No ClinVar
dbSNP
TCGA novel 340 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1430786115
CA339955783
 344 M>I No ClinGen
gnomAD
rs769197923
CA803363
 348 A>V No ClinGen
ExAC
gnomAD
CA339955685
rs1202505639
 349 I>L No ClinGen
TOPMed
gnomAD
rs1341049777
CA339955663
 349 I>T No ClinGen
gnomAD
CA339955678
rs1202505639
 349 I>V No ClinGen
TOPMed
gnomAD
CA318455
rs796053257
RCV000189371
 350 L>P No ClinGen
ClinVar
Ensembl
dbSNP
rs1270248389
CA339955606
 351 M>I No ClinGen
gnomAD
TCGA novel 352 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21250132
rs531005993
 352 T>I No ClinGen
1000Genomes
CA21250128
rs992419688
 353 I>T No ClinGen
Ensembl
rs1229028572
CA339955574
 353 I>V No ClinGen
gnomAD
CA803360
rs756790359
 354 A>V No ClinGen
ExAC
gnomAD
CA339955483
rs1454569723
 357 L>P No ClinGen
TOPMed
gnomAD
RCV001008987
rs1570591037
 359 E>missing No ClinVar
dbSNP
rs1553155900
RCV000598861
 362 P>missing No ClinVar
dbSNP
rs747658630
CA803338
 362 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1203803892
CA339954407
 364 M>L No ClinGen
gnomAD
rs1325549402
CA339954396
 364 M>T No ClinGen
gnomAD
CA339954322
rs1395523942
 368 S>N No ClinGen
Ensembl
CA339954299
rs1227537819
 369 I>N No ClinGen
gnomAD
CA318457
RCV000189372
rs796053258
 369 I>V No ClinGen
ClinVar
Ensembl
dbSNP
CA803335
rs779678519
 377 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA21249189
rs75020603
 380 E>* No ClinGen
Ensembl
rs929498798
CA21249187
 381 V>M No ClinGen
Ensembl
CA16603688
rs1057521632
RCV000442546
 383 P>L No ClinGen
ClinVar
Ensembl
dbSNP
rs886039737
RCV000255483
 386 I>missing No ClinVar
dbSNP
rs1553155889
CA318465
 386 I>V No ClinGen
Ensembl
CA339953916
rs1384263716
 392 A>P No ClinGen
gnomAD
rs1570590940
CA339953904
 393 E>D No ClinGen
Ensembl
CA658656901
rs1553155885
RCV000520991
 396 S>* No ClinGen
ClinVar
Ensembl
dbSNP
CA339953887
rs1183662521
 396 S>G No ClinGen
gnomAD
CA21249167
rs80359827
 397 Q>* No ClinGen
Ensembl
rs1027810691
CA21249165
 398 G>S No ClinGen
TOPMed
gnomAD
rs1557645029
CA339953827
 402 A>P No ClinGen
Ensembl
CA803325
rs774646485
 404 I>T No ClinGen
ExAC
gnomAD
rs374789687
CA803326
 404 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1264080435
CA339953744
 407 A>G No ClinGen
gnomAD
rs1318652576
CA339953722
 409 F>V No ClinGen
gnomAD
RCV000599180
rs1553155880
 410 S>missing No ClinVar
dbSNP
TCGA novel 418 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21249071
rs139722450
 419 G>A No ClinGen
ESP
TOPMed
rs1320662318
CA339953653
 419 G>S No ClinGen
gnomAD
RCV000413602
CA16042369
rs139722450
 419 G>V No ClinGen
ClinVar
ESP
TOPMed
dbSNP
CA339953619
rs1425712703
 423 Q>H No ClinGen
TOPMed
RCV000147521
rs587784392
CA019033
 423 Q>R No ClinGen
ClinVar
Ensembl
dbSNP
rs1188094356
CA339953607
 425 V>A No ClinGen
Ensembl
rs1553155843
RCV000522544
CA339953583
 427 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
CA339953533
rs1175838250
 431 P>L No ClinGen
gnomAD
TCGA novel 431 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468239807
CA339953528
 432 Y>H No ClinGen
gnomAD
rs200819771
CA803289
 433 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA803287
rs756347604
 449 Y>F No ClinGen
ExAC
gnomAD
rs1216296247
CA339953247
 450 F>L No ClinGen
TOPMed
CA21248814
rs767510220
 457 G>A No ClinGen
ExAC
gnomAD
CA803285
rs767510220
 457 G>D No ClinGen
ExAC
gnomAD
rs752143706
RCV000440623
CA803284
 458 R>Q No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1243627480
CA339952993
 461 D>E No ClinGen
TOPMed
CA21248791
rs370257930
 461 D>N No ClinGen
ESP
CA21248787
rs1047721769
 461 D>V No ClinGen
TOPMed
rs763390868
CA803282
 465 S>T No ClinGen
ExAC
gnomAD
rs1225304808
CA339952887
 466 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs13306754
CA21248775
 468 R>L No ClinGen
gnomAD
CA339952848
rs13306754
 468 R>Q No ClinGen
gnomAD
rs1553155816
RCV000598793
 469 Q>missing No ClinVar
dbSNP
rs1421901500
CA339952726
 473 S>G No ClinGen
TOPMed
CA21248747
rs994163843
 478 T>I No ClinGen
Ensembl
rs1025285774
CA21248750
 478 T>P No ClinGen
Ensembl
CA339952415
rs1362971897
 483 F>S No ClinGen
gnomAD
rs1159593580
CA339952342
 485 P>R No ClinGen
gnomAD
rs1460882564
CA339952202
 490 S>T No ClinGen
gnomAD
CA339952165
rs754985269
 492 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA803275
rs754985269
 492 V>M No ClinGen
ExAC
TOPMed
gnomAD

5 associated diseases with P11166

[MIM: 606777]: GLUT1 deficiency syndrome 1 (GLUT1DS1)

A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability. {ECO:0000269|PubMed:10227690, ECO:0000269|PubMed:10980529, ECO:0000269|PubMed:11136715, ECO:0000269|PubMed:11603379, ECO:0000269|PubMed:12325075, ECO:0000269|PubMed:15622525, ECO:0000269|PubMed:19901175, ECO:0000269|PubMed:20129935, ECO:0000269|PubMed:20221955, ECO:0000269|PubMed:20574033, ECO:0000269|PubMed:24847886, ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:30197081}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 612126]: GLUT1 deficiency syndrome 2 (GLUT1DS2)

A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO:0000269|PubMed:14605501, ECO:0000269|PubMed:18451999, ECO:0000269|PubMed:19630075, ECO:0000269|PubMed:19798636, ECO:0000269|PubMed:20129935, ECO:0000269|PubMed:20574033, ECO:0000269|PubMed:20621801, ECO:0000269|PubMed:20830593, ECO:0000269|PubMed:21204808}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 614847]: Epilepsy, idiopathic generalized 12 (EIG12)

A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. {ECO:0000269|PubMed:19798636, ECO:0000269|PubMed:22282645, ECO:0000269|PubMed:23280796, ECO:0000269|PubMed:25982116}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 601042]: Dystonia 9 (DYT9)

An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. {ECO:0000269|PubMed:21832227}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 608885]: Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)

A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder. {ECO:0000269|PubMed:21791420, ECO:0000269|PubMed:22492876}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability. {ECO:0000269|PubMed:10227690, ECO:0000269|PubMed:10980529, ECO:0000269|PubMed:11136715, ECO:0000269|PubMed:11603379, ECO:0000269|PubMed:12325075, ECO:0000269|PubMed:15622525, ECO:0000269|PubMed:19901175, ECO:0000269|PubMed:20129935, ECO:0000269|PubMed:20221955, ECO:0000269|PubMed:20574033, ECO:0000269|PubMed:24847886, ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:30197081}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO:0000269|PubMed:14605501, ECO:0000269|PubMed:18451999, ECO:0000269|PubMed:19630075, ECO:0000269|PubMed:19798636, ECO:0000269|PubMed:20129935, ECO:0000269|PubMed:20574033, ECO:0000269|PubMed:20621801, ECO:0000269|PubMed:20830593, ECO:0000269|PubMed:21204808}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. {ECO:0000269|PubMed:19798636, ECO:0000269|PubMed:22282645, ECO:0000269|PubMed:23280796, ECO:0000269|PubMed:25982116}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. {ECO:0000269|PubMed:21832227}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder. {ECO:0000269|PubMed:21791420, ECO:0000269|PubMed:22492876}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P11166

Type Name Position InterPro Accession
conserved_site Sugar transporter, conserved site 128 - 153 IPR005829-1
conserved_site Sugar transporter, conserved site 324 - 340 IPR005829-2
domain Major facilitator superfamily domain 15 - 456 IPR020846

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Melanosome
  • Photoreceptor inner segment
  • Localizes primarily at the cell surface (PubMed:18245775, PubMed:19449892, PubMed:23219802, PubMed:24847886, PubMed:25982116)
  • Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

20 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
blood microparticle A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids.
caveola A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cortical actin cytoskeleton The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
female germ cell nucleus The nucleus of the female germ cell, a reproductive cell in females.
female pronucleus The pronucleus originating from the ovum that is being fertilized.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intercalated disc A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.
melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
photoreceptor inner segment The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse The part of a synapse that is part of the presynaptic cell.
sarcolemma The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.
Z disc Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

9 GO annotations of molecular function

Name Definition
D-glucose transmembrane transporter activity Enables the transfer of the D-enantiomer of the hexose monosaccharide glucose from one side of a membrane to the other.
dehydroascorbic acid transmembrane transporter activity Enables the transfer of dehydroascorbate, 5-(1,2-dihydroxyethyl)furan-2,3,4(5H)-trione, from one side of a membrane to the other.
glucose transmembrane transporter activity Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other.
hexose transmembrane transporter activity Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other.
identical protein binding Binding to an identical protein or proteins.
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
long-chain fatty acid transporter activity Enables the transfer of long-chain fatty acids from one side of a membrane to the other. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
protein self-association Binding to a domain within the same polypeptide.
xenobiotic transmembrane transporter activity Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

19 GO annotations of biological process

Name Definition
cellular hyperosmotic response Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, a hyperosmotic environment, i.e. an environment with a higher concentration of solutes than the organism or cell.
cellular response to glucose starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose.
cellular response to mechanical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.
central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
cerebral cortex development The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon.
dehydroascorbic acid transport The directed movement of dehydroascorbate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dehydroascorbate, 5-(1,2-dihydroxyethyl)furan-2,3,4(5H)-trione, is an oxidized form of vitamin C.
female pregnancy The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth.
glucose import The directed movement of the hexose monosaccharide glucose into a cell or organelle.
glucose import across plasma membrane The directed movement of glucose from outside of a cell, across the plasma membrane and into the cytosol.
glucose transmembrane transport The process in which glucose is transported across a membrane.
L-ascorbic acid metabolic process The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species.
long-chain fatty acid import across plasma membrane The directed movement of long-chain fatty acids from outside of a cell, across the plasma membrane and into the cytosol. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
monosaccharide transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides.
photoreceptor cell maintenance Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light.
protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
response to hypoxia Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to insulin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
response to Thyroglobulin triiodothyronine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a Thyroglobulin triiodothyronine stimulus.
transport across blood-brain barrier The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P58352 SLC2A3 Solute carrier family 2, facilitated glucose transporter member 3 Bos taurus (Bovine) PR
P27674 SLC2A1 Solute carrier family 2, facilitated glucose transporter member 1 Bos taurus (Bovine) PR
P17809 Slc2a1 Solute carrier family 2, facilitated glucose transporter member 1 Mus musculus (Mouse) PR
P20303 SLC2A1 Solute carrier family 2, facilitated glucose transporter member 1 Sus scrofa (Pig) PR
10 20 30 40 50 60
MEPSSKKLTG RLMLAVGGAV LGSLQFGYNT GVINAPQKVI EEFYNQTWVH RYGESILPTT
70 80 90 100 110 120
LTTLWSLSVA IFSVGGMIGS FSVGLFVNRF GRRNSMLMMN LLAFVSAVLM GFSKLGKSFE
130 140 150 160 170 180
MLILGRFIIG VYCGLTTGFV PMYVGEVSPT ALRGALGTLH QLGIVVGILI AQVFGLDSIM
190 200 210 220 230 240
GNKDLWPLLL SIIFIPALLQ CIVLPFCPES PRFLLINRNE ENRAKSVLKK LRGTADVTHD
250 260 270 280 290 300
LQEMKEESRQ MMREKKVTIL ELFRSPAYRQ PILIAVVLQL SQQLSGINAV FYYSTSIFEK
310 320 330 340 350 360
AGVQQPVYAT IGSGIVNTAF TVVSLFVVER AGRRTLHLIG LAGMAGCAIL MTIALALLEQ
370 380 390 400 410 420
LPWMSYLSIV AIFGFVAFFE VGPGPIPWFI VAELFSQGPR PAAIAVAGFS NWTSNFIVGM
430 440 450 460 470 480
CFQYVEQLCG PYVFIIFTVL LVLFFIFTYF KVPETKGRTF DEIASGFRQG GASQSDKTPE
490
ELFHPLGADS QV