Q96C23
PR
Gene name |
GALM |
Protein name |
Galactose mutarotase |
Names |
Aldose 1-epimerase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:130589 |
EC number |
5.1.3.3: Acting on carbohydrates and derivatives |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q96C23
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1SNZ | X-ray | 220 A | A/B | 1-342 | PDB |
| 1SO0 | X-ray | 230 A | A/B/C/D | 1-342 | PDB |
| AF-Q96C23-F1 | Predicted | AlphaFoldDB |
325 variants for Q96C23
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1621443 RCV001093636 rs115413295 |
82 | R>* | Galactosemia 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_083547 | 82 | R>del | GALAC4; loss of protein accumulation [UniProt] | Yes | UniProt |
|
rs751902026 RCV001093635 |
99 | I>missing | Galactosemia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1621534 RCV001093638 rs114440198 VAR_083548 RCV001856283 |
142 | G>R | Galactosemia 4 GALAC4; unknown pathological significance; decreased protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1229797646 VAR_083549 RCV001093637 |
267 | R>G | Galactosemia 4 GALAC4; decreased protein stability [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001093639 rs767153310 CA1621690 |
311 | W>* | Galactosemia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_083550 | 311 | W>del | GALAC4; decreased protein stability [UniProt] | Yes | UniProt |
|
rs1159501195 CA346332981 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs909022991 CA45585160 |
3 | S>L | No |
ClinGen Ensembl |
|
|
rs1390552721 CA346332983 |
3 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs941785683 CA45585185 |
4 | V>A | No |
ClinGen Ensembl |
|
|
rs753623665 CA45585203 |
5 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1371025845 CA346332997 |
5 | T>I | No |
ClinGen gnomAD |
|
|
rs753623665 CA45585189 |
5 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs753623665 CA346332994 |
5 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346332998 rs1283061113 |
6 | R>G | No |
ClinGen TOPMed |
|
|
CA1621373 rs201614590 |
6 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765926290 CA1621374 |
6 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201614590 CA346333000 |
6 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346333003 rs1346834350 |
7 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 7 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1621375 rs751172717 |
8 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45585249 rs11542709 |
9 | F>L | No |
ClinGen Ensembl |
|
|
CA1621376 rs759116307 |
10 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621377 rs569393907 |
11 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346333033 rs1211993670 |
12 | L>M | No |
ClinGen gnomAD |
|
|
rs201350001 CA1621378 |
12 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1621379 rs757587193 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346333039 rs1401864310 |
13 | P>S | No |
ClinGen TOPMed |
|
|
CA1621380 rs779372238 |
15 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421396336 CA346333076 |
17 | G>W | No |
ClinGen gnomAD |
|
|
rs750728115 CA1621381 |
19 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1621382 rs758700731 |
21 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346333127 rs1368203240 |
21 | K>R | No |
ClinGen gnomAD |
|
|
CA346333148 rs1166592976 |
22 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346333165 rs1394723156 |
23 | Q>H | No |
ClinGen gnomAD |
|
|
rs1010462800 CA346333207 |
26 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA45585311 rs1010462800 |
26 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3799006 CA346333261 rs539849334 CA1621384 |
29 | L>F | urinary_tract Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA346333273 rs1391831668 |
30 | R>K | No |
ClinGen gnomAD |
|
|
CA346333271 rs1391831668 |
30 | R>T | No |
ClinGen gnomAD |
|
|
rs768664471 CA1621385 |
31 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1621386 COSM225995 rs548632923 |
32 | D>N | NS [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1273636988 CA346333320 |
33 | I>T | No |
ClinGen gnomAD |
|
|
rs1045640900 CA45585356 |
33 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748035711 CA1621387 |
34 | I>V | No |
ClinGen ExAC |
|
|
rs769589872 CA1621388 |
35 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs770687869 CA1621391 |
36 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs773110151 CA1621390 |
36 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA1621389 rs773110151 |
36 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481668818 CA346333413 |
39 | T>A | No |
ClinGen gnomAD |
|
|
CA346333421 rs1196840557 |
39 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1196840557 CA346333424 |
39 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346333448 rs1263376779 |
41 | T>I | No |
ClinGen TOPMed |
|
|
CA1621392 rs774084302 |
41 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1558573505 CA346333491 |
43 | L>P | No |
ClinGen Ensembl |
|
|
CA1621396 rs752221147 |
44 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1621395 rs752221147 |
44 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750862482 CA1621398 |
45 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 47 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751729845 CA1621401 |
48 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 51 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346333572 rs1293677444 |
51 | R>T | No |
ClinGen gnomAD |
|
|
rs781291813 CA1621403 |
52 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA45585528 rs962462291 |
53 | S>L | No |
ClinGen TOPMed |
|
|
CA1621407 rs749117259 |
55 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428886724 CA346333613 |
55 | V>L | No |
ClinGen TOPMed |
|
|
CA1621409 rs770576965 |
56 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA1621408 rs770576965 |
56 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1213726006 CA346333646 |
58 | G>A | No |
ClinGen gnomAD |
|
|
rs1213726006 CA346333647 |
58 | G>V | No |
ClinGen gnomAD |
|
|
CA1621412 rs576534624 |
59 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346333669 rs1184353626 |
61 | E>K | No |
ClinGen gnomAD |
|
|
rs1421166710 CA346333690 |
63 | E>K | No |
ClinGen gnomAD |
|
|
CA1621432 rs367911059 |
65 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304320521 CA346335083 |
67 | Q>R | No |
ClinGen gnomAD |
|
|
rs763408761 CA1621433 |
68 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1621435 rs766850711 |
71 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA346335109 rs1222631445 |
71 | Y>H | No |
ClinGen gnomAD |
|
|
rs759891162 CA1621436 |
74 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1220315292 CA346335145 |
76 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367689133 CA1621439 |
78 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346335165 rs764044106 |
80 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621440 rs764044106 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45597413 rs140986269 |
81 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1621441 rs753925858 |
81 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs115413295 CA1621442 |
82 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1621444 rs750244194 |
82 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1668856 CA1621445 rs967413175 |
84 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1621447 rs150286350 |
85 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346335205 rs779778477 |
87 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779778477 CA1621448 |
87 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45597463 rs751449843 |
87 | T>P | No |
ClinGen Ensembl |
|
|
rs779778477 CA1621449 |
87 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346335220 rs1255611902 |
89 | K>N | No |
ClinGen TOPMed |
|
|
rs1166529854 CA346335219 |
89 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1621451 rs768321999 |
90 | V>L | No |
ClinGen ExAC |
|
|
CA1621450 rs768321999 |
90 | V>M | No |
ClinGen ExAC |
|
|
rs1572511930 CA346335226 |
91 | D>N | No |
ClinGen Ensembl |
|
|
CA346335231 rs1558577995 |
91 | D>V | No |
ClinGen Ensembl |
|
|
CA1621452 rs747645368 |
92 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371526259 CA1621453 |
93 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs114353506 CA1621454 |
94 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759911686 CA1621455 |
95 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1281806205 CA346335253 |
95 | Y>D | No |
ClinGen gnomAD |
|
|
rs867897279 CA45597524 |
96 | H>Y | No |
ClinGen Ensembl |
|
|
CA346335277 rs1457010786 |
98 | A>V | No |
ClinGen Ensembl |
|
|
CA346335281 rs1291394614 |
99 | I>T | No |
ClinGen Ensembl |
|
|
rs978743907 CA45597549 |
99 | I>V | No |
ClinGen Ensembl |
|
|
rs760850177 CA1621459 |
100 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1621461 rs753928648 |
103 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621462 rs753928648 |
103 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777433874 CA45597586 |
103 | P>S | No |
ClinGen Ensembl |
|
|
rs202097665 CA1621463 |
104 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758299865 CA1621465 |
105 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1621467 rs751345417 |
108 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165945897 CA346335346 |
109 | G>E | No |
ClinGen gnomAD |
|
|
CA1621468 rs754646773 |
109 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621470 rs747661721 |
110 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201066067 CA45597649 |
110 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201066067 CA1621469 |
110 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558578050 CA346335350 |
111 | R>G | No |
ClinGen Ensembl |
|
|
CA346335357 rs139383190 CA1621471 |
112 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372070636 CA1621516 |
121 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1621515 rs372070636 |
121 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990325550 CA45602475 |
121 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA45602512 rs981036510 |
122 | V>G | No |
ClinGen TOPMed |
|
|
rs376959937 CA1621517 |
122 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1621518 rs376959937 |
122 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346335591 rs1461074129 |
126 | G>A | No |
ClinGen gnomAD |
|
|
CA1621520 rs536207322 |
127 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs561652582 CA1621521 |
130 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200877275 CA1621523 |
131 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200877275 CA1621524 |
131 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs114743178 CA1621526 |
131 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346335620 rs114743178 |
131 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200877275 CA1621525 |
131 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760392222 CA1621527 |
133 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763746469 CA1621528 |
133 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs753477225 CA1621529 |
134 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA346335635 rs753477225 |
134 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761257549 CA346335639 |
135 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761257549 CA1621530 |
135 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1621531 rs764841921 |
136 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1440213702 CA346335651 |
137 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA346335659 rs1558580019 |
138 | E>K | No |
ClinGen Ensembl |
|
|
rs1451016528 CA346335672 |
139 | G>D | No |
ClinGen Ensembl |
|
|
rs1470799947 CA346335679 |
140 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346335690 rs1157164491 |
142 | G>A | No |
ClinGen TOPMed |
|
|
CA45602560 rs943389867 |
143 | E>Q | No |
ClinGen TOPMed |
|
|
CA346335707 rs1558580039 |
145 | K>E | No |
ClinGen Ensembl |
|
|
CA45602582 rs11542708 |
146 | V>A | No |
ClinGen Ensembl |
|
|
CA346335722 rs1479320721 COSM187336 |
147 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1040391197 CA45602598 |
148 | V>G | No |
ClinGen TOPMed |
|
|
CA1621537 rs181511154 |
148 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749487667 CA1621538 |
150 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA346335745 rs1572515484 |
151 | T>P | No |
ClinGen Ensembl |
|
|
rs779103191 CA1621540 |
153 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1621542 rs772066596 |
155 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621543 rs544544976 |
156 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281945679 CA346335797 |
159 | V>G | No |
ClinGen TOPMed |
|
|
rs761574253 CA1621547 |
161 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776255880 CA1621546 |
161 | Y>N | No |
ClinGen ExAC |
|
|
CA1621551 rs768153557 |
163 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1621550 rs750015450 |
163 | A>S | No |
ClinGen ExAC |
|
|
CA1621549 rs750015450 |
163 | A>T | No |
ClinGen ExAC |
|
|
rs74917735 CA346335825 |
164 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346335824 rs74917735 |
164 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621552 rs74917735 |
164 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346335831 rs1346394811 |
165 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1621553 rs756579355 |
168 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1302504360 CA346335863 |
169 | T>I | No |
ClinGen TOPMed |
|
|
CA1621555 rs754133960 |
172 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1205920090 CA346335884 |
173 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346335901 rs1483194749 |
175 | N>K | No |
ClinGen gnomAD |
|
|
CA346335911 rs1307121079 |
177 | S>P | No |
ClinGen Ensembl |
|
|
rs757561349 CA346335930 |
179 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370869605 CA1621558 |
182 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346335954 rs772088658 |
183 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621559 rs772088658 |
183 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779993943 CA1621561 |
184 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346337369 rs747076486 |
186 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1621582 rs747076486 |
186 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755008518 CA1621583 |
187 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200292259 CA1621584 |
189 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_024451 rs6741892 CA1621585 |
190 | N>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769427897 CA1621586 |
191 | D>V | No |
ClinGen ExAC |
|
|
CA45609711 rs757320017 |
192 | H>P | No |
ClinGen TOPMed |
|
|
CA346337412 rs1277727437 |
193 | E>* | No |
ClinGen TOPMed |
|
|
rs748991004 CA1621588 |
194 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114163804 CA1621589 |
196 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368253953 CA1621591 |
198 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368253953 CA1621590 |
198 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746925447 CA1621593 |
199 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351500203 CA346337455 |
200 | T>A | No |
ClinGen gnomAD |
|
|
rs762266173 CA1621594 |
200 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1621595 rs141134809 |
201 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750761637 CA1621596 |
203 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1271751717 CA346337482 |
204 | V>A | No |
ClinGen gnomAD |
|
|
rs143494684 CA1621599 |
205 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1621598 rs146728035 |
205 | D>H | No |
ClinGen ESP ExAC |
|
|
CA346337484 rs146728035 |
205 | D>N | No |
ClinGen ESP ExAC |
|
|
rs146728035 CA45609768 |
205 | D>Y | No |
ClinGen ESP ExAC |
|
|
CA346337501 rs754954515 |
207 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1621600 rs754954515 |
207 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA346337504 rs1185580785 |
208 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747997001 CA346337514 |
210 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621603 rs747997001 |
210 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1163904945 | 211 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1621604 rs199777161 |
212 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1468109734 CA346340122 |
212 | G>A | No |
ClinGen gnomAD |
|
|
rs199777161 CA346337526 |
212 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1621622 rs756065163 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1621623 rs766959943 |
216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452752595 CA346340143 |
216 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346340144 rs1452752595 |
216 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757065320 CA346340193 |
222 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778733977 COSM1020830 CA1621626 |
223 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA346340225 rs1405979843 |
224 | L>P | No |
ClinGen TOPMed |
|
|
CA346340273 rs1478513085 |
227 | P>S | No |
ClinGen TOPMed |
|
|
CA346340269 rs1478513085 |
227 | P>T | No |
ClinGen TOPMed |
|
|
rs771730357 CA1621628 |
229 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA45587571 rs973061425 |
230 | L>V | No |
ClinGen TOPMed |
|
|
CA346340363 rs1352116982 |
233 | H>Y | No |
ClinGen gnomAD |
|
|
rs1289253068 CA346340399 |
235 | Q>R | No |
ClinGen gnomAD |
|
|
CA346340462 rs1216274469 |
239 | L>I | No |
ClinGen TOPMed |
|
|
rs1357585168 CA346340537 |
243 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1357585168 CA346340535 |
243 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1621633 rs770288133 |
244 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250003251 CA346340578 |
245 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1484256764 CA346340582 |
245 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183398940 CA346340680 |
251 | S>P | No |
ClinGen gnomAD |
|
|
CA346340682 rs1183398940 |
251 | S>T | No |
ClinGen gnomAD |
|
|
CA1621635 rs763330082 |
252 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771246616 CA1621636 |
253 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774667697 CA1621637 |
254 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA45587684 rs911411022 |
255 | H>N | No |
ClinGen TOPMed |
|
|
rs759728547 CA1621638 |
255 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1621639 rs139320905 |
258 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346340737 rs1461373735 |
258 | A>T | No |
ClinGen gnomAD |
|
|
rs139320905 CA1621640 |
258 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372135547 CA346340744 |
259 | R>T | No |
ClinGen gnomAD |
|
|
CA346341097 rs1304841449 |
261 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1022943042 CA45589916 |
262 | H>Y | No |
ClinGen Ensembl |
|
|
rs200427606 CA1621662 |
263 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs527668111 CA1621664 |
266 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527668111 CA1621665 |
266 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552741943 CA1621666 |
267 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346341194 rs1229797646 |
267 | R>W | No |
ClinGen gnomAD |
|
|
rs887870882 CA45589989 |
268 | V>G | No |
ClinGen TOPMed |
|
|
rs1310836645 CA346341207 |
268 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3839511 rs570948999 CA1621667 |
271 | V>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA346341250 rs1211755173 |
271 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1621668 rs750187952 |
272 | Y>H | No |
ClinGen ExAC |
|
|
rs758153760 CA1621669 |
273 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621670 rs765969103 |
273 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1034886694 CA45590025 |
276 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780730472 CA1621673 |
277 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1621672 rs377121126 |
277 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370570697 CA1621674 |
281 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 281 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45590065 rs370570697 |
281 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149331676 CA346341406 |
282 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1621675 rs149331676 |
282 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA45590096 rs979530350 |
284 | N>K | No |
ClinGen Ensembl |
|
|
CA45590097 rs900477685 |
285 | F>I | No |
ClinGen TOPMed |
|
|
CA346341430 rs1558599897 |
286 | L>Q | No |
ClinGen Ensembl |
|
|
CA1621679 rs775609819 |
288 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1366167295 CA346341446 |
289 | T>P | No |
ClinGen gnomAD |
|
|
rs943657006 CA45590149 |
295 | G>E | No |
ClinGen Ensembl |
|
|
rs148753204 CA45590144 |
295 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA1621682 rs776913901 |
296 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs536111413 CA45590156 |
296 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1621681 rs536111413 |
296 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1040600127 CA45590167 |
297 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1464982382 CA346341506 |
298 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs553372506 CA1621684 |
301 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 302 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146302155 CA45590177 |
303 | G>S | No |
ClinGen ESP gnomAD |
|
|
CA1621686 rs762686164 |
303 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929483358 CA45590203 |
307 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751290479 CA1621688 |
308 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA45590208 rs1047863001 |
308 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1621689 rs200689749 |
310 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346341587 rs1429272223 |
311 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186974316 CA346341612 |
314 | A>V | No |
ClinGen TOPMed |
|
|
CA346341647 rs1439303247 |
317 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755343545 CA1621716 |
319 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116100345 CA1621717 |
319 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs116100345 CA346342291 |
319 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748420770 CA1621718 |
320 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140271694 CA1621719 |
322 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140271694 CA346342306 |
322 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140271694 CA346342305 |
322 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1033087597 CA346342316 |
323 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA45592256 rs1033087597 |
323 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1621720 rs777967063 |
324 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346342343 rs1390083048 |
325 | L>R | No |
ClinGen gnomAD |
|
|
rs749325639 CA1621721 |
327 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621722 rs575045929 |
328 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774218658 CA1621724 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346342453 rs1558600637 |
332 | D>N | No |
ClinGen Ensembl |
|
|
CA1621726 rs771817102 |
332 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1621728 rs112628295 |
333 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362939369 CA346342504 |
335 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA45592317 rs370923789 |
335 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1621729 rs763645200 |
336 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45592328 rs763645200 |
336 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374312709 CA45592334 |
337 | F>Y | No |
ClinGen ESP TOPMed |
|
|
CA346342571 rs1334227232 |
338 | K>N | No |
ClinGen Ensembl |
|
|
rs761167762 CA1621731 |
339 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1621732 rs767014406 |
340 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346342617 rs1572549430 |
341 | V>A | No |
ClinGen Ensembl |
|
|
rs1444405032 CA346342608 |
341 | V>M | No |
ClinGen gnomAD |
1 associated diseases with Q96C23
[MIM: 618881]: Galactosemia 4 (GALAC4)
A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. {ECO:0000269|PubMed:30451973}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. {ECO:0000269|PubMed:30451973}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96C23
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Aldose 1-epimerase, conserved site | 172 - 181 | IPR018052 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.1.3.3 | Acting on carbohydrates and derivatives |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| aldose 1-epimerase activity | Catalysis of the reaction: alpha-D-glucose = beta-D-glucose. Also acts on L-arabinose, D-xylose, D-galactose, maltose and lactose. |
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| galactose catabolic process via UDP-galactose | The chemical reactions and pathways resulting in the breakdown of galactose, via the intermediate UDP-galactose. |
| galactose metabolic process | The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. |
| glucose metabolic process | The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASVTRAVFG | ELPSGGGTVE | KFQLQSDLLR | VDIISWGCTI | TALEVKDRQG | RASDVVLGFA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELEGYLQKQP | YFGAVIGRVA | NRIAKGTFKV | DGKEYHLAIN | KEPNSLHGGV | RGFDKVLWTP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RVLSNGVQFS | RISPDGEEGY | PGELKVWVTY | TLDGGELIVN | YRAQASQATP | VNLTNHSYFN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LAGQASPNIN | DHEVTIEADT | YLPVDETLIP | TGEVAPVQGT | AFDLRKPVEL | GKHLQDFHLN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GFDHNFCLKG | SKEKHFCARV | HHAASGRVLE | VYTTQPGVQF | YTGNFLDGTL | KGKNGAVYPK |
| 310 | 320 | 330 | 340 | ||
| HSGFCLETQN | WPDAVNQPRF | PPVLLRPGEE | YDHTTWFKFS | VA |