P30531
PR
Gene name |
SLC6A1 (GABATR, GABT1, GAT1) |
Protein name |
Sodium- and chloride-dependent GABA transporter 1 |
Names |
GAT-1, Solute carrier family 6 member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6529 |
EC number |
|
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
423 variants for P30531
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1697186082 RCV001229878 |
9 | A>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000987112 RCV002320199 COSM385928 CA351788025 rs1264567694 |
11 | G>R | lung Myoclonic-atonic epilepsy Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1553687808 RCV001297682 |
13 | I>F | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060035 rs781163448 CA2254777 |
13 | I>T | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553687808 RCV000652589 CA351788040 |
13 | I>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1697187552 RCV001312887 |
14 | S>P | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs935976612 RCV000532394 CA70129862 |
18 | S>G | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001270758 CA70129883 rs142007193 |
25 | D>E | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002312450 RCV001362789 rs1334690406 RCV003128657 CA351788170 |
33 | K>E | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001347725 rs1697191777 |
37 | K>A | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2254788 RCV001208007 rs764382700 |
43 | D>N | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA351788240 RCV000706407 rs794726859 |
44 | R>P | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003156080 RCV000172994 rs794726859 RCV001092965 CA200217 VAR_073852 |
44 | R>Q | Autosomal dominant epilepsy Myoclonic-atonic epilepsy Variant assessed as Somatic; impact. MAE [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA351788239 rs1553687863 RCV001788273 RCV000524089 |
44 | R>W | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751216831 RCV001051023 CA2254792 RCV002393253 |
48 | K>N | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000494610 rs754493263 RCV001865553 CA2254793 |
50 | R>C | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA2254794 RCV001204140 rs766945941 |
50 | R>H | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000995646 CA351788279 rs766945941 |
50 | R>L | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA351788284 RCV000536719 rs1553687887 |
51 | F>Y | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1574891085 RCV000808423 CA351788291 |
52 | D>Y | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001003581 rs1574891108 CA351788324 |
56 | S>F | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001235967 rs1697196424 |
57 | C>G | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16604788 RCV002289576 rs1057523845 RCV000422208 |
63 | G>S | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340814 rs1697197329 |
65 | G>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207473 rs1697197599 |
66 | N>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486685 rs1064795852 RCV000496132 CA16617796 |
75 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266675 rs1697199338 |
78 | G>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000489777 RCV002470879 CA351788472 rs1085307804 |
79 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1697220075 RCV001338820 |
84 | I>M | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792936 CA2254837 rs758250115 |
91 | I>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000497611 rs1553688015 CA351788596 RCV001814168 VAR_086249 |
94 | G>E | Myoclonic-atonic epilepsy complete loss of GABA transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA351788683 rs1553688027 RCV000551249 |
102 | C>F | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA351788690 rs1574892346 RCV000790458 |
103 | S>P | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144322561 RCV001055520 |
105 | G>C | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697222986 RCV001058813 |
105 | G>D | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481964 rs1064795290 CA16617797 RCV000987113 |
106 | Q>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1574892400 CA351788747 RCV003141920 RCV000997992 |
108 | T>A | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1574892457 RCV000993014 RCV001342350 CA351788783 |
111 | G>E | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694402 RCV001592884 CA351788779 rs1559622516 |
111 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1574892457 RCV000798733 CA351788787 |
111 | G>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1697224249 RCV001048889 |
113 | L>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574893965 RCV000805226 CA351788973 |
125 | V>M | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1697262028 RCV001045774 |
129 | A>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697263091 RCV001251648 |
135 | W>* | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697264007 RCV001257718 |
140 | Y>C | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748779390 CA2254908 RCV000553125 |
165 | D>N | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000819351 rs1574897036 |
175 | S>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs34299874 RCV002315026 CA2254912 RCV000713350 RCV001082092 |
179 | M>V | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1697341413 RCV001220904 |
185 | M>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697343079 RCV001201975 |
193 | W>L | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2254937 RCV000816595 rs773445048 COSM1226507 |
195 | R>H | Myoclonic-atonic epilepsy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375623402 RCV001593217 CA2254941 RCV001047390 |
206 | K>E | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1697440696 RCV001253498 |
208 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553688970 RCV000599614 RCV002464258 RCV000531185 RCV002358609 |
214 | L>missing | Myoclonic-atonic epilepsy SLC6A1-related neurodevelopmental disorder Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001092966 rs1396036517 RCV001232818 CA351789791 |
217 | T>M | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs754749693 CA2254951 RCV000694977 |
220 | I>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001257678 rs1697444014 |
232 | G>V | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697444489 RCV001207840 |
235 | W>* | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054040 CA351789957 rs1184399068 |
240 | V>A | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16604346 RCV000797704 rs1057524158 RCV000443123 |
247 | P>L | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689319 rs1559629753 CA351790065 |
256 | F>S | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002225827 RCV001341651 CA2254990 rs777446246 |
260 | T>M | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000800741 CA351790099 rs1574906592 |
262 | P>S | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001555450 RCV000806802 CA351790105 rs1574906609 |
263 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824863 rs1574906665 |
268 | I>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553689580 CA351790153 VAR_086251 RCV000623778 |
270 | F>S | Inborn genetic diseases MAE; unknown pathological significance; retains about 2% of wild-type GABA transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001246571 rs910919772 CA70134067 |
272 | I>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_086252 | 272 | I>del | MAE; unknown pathological significance; retains about 13% of wild-type GABA transporter activity [UniProt] | Yes | UniProt |
|
CA2255001 rs752396911 RCV000655989 RCV002248734 RCV001510916 |
277 | R>H | Myoclonic-atonic epilepsy Childhood epilepsy with centrotemporal spikes [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210833 rs1697587984 |
283 | E>K | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210793 rs1559630133 |
284 | V>L | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693107 CA351790262 rs1559630143 |
285 | W>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002508925 RCV000622292 CA200221 RCV000414233 RCV000172998 rs794726860 VAR_073853 |
288 | A>V | Myoclonic-atonic epilepsy Inborn genetic diseases Autism spectrum disorder MAE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1697597168 RCV001262547 |
289 | A>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795098 RCV000483777 RCV000509238 CA16617799 |
291 | Q>* | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1574907198 RCV000987114 RCV001567814 RCV001257677 |
294 | F>missing | Intellectual disability Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351790334 RCV000844979 rs1574907241 RCV001788373 |
295 | S>L | Myoclonic-atonic epilepsy SLC6A1-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876657400 VAR_073854 CA10575721 RCV001268638 RCV000172995 |
297 | G>R | Myoclonic-atonic epilepsy MAE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001226076 rs1697598818 |
297 | G>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321418 rs1574907293 |
302 | S>T | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351790388 RCV001587290 rs1391625316 RCV001253364 |
305 | A>T | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001050543 rs1553689696 RCV002279277 CA351790402 RCV000497644 |
307 | G>R | Myoclonic-atonic epilepsy Neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058026 rs1697600999 |
310 | N>K | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052758 CA70134278 rs896013015 |
310 | N>S | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2255041 rs768276892 RCV000799936 |
315 | N>D | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1409813316 CA351790463 RCV001323141 |
316 | V>I | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA351790524 rs1403165900 RCV000817979 |
323 | V>F | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000624483 rs1403165900 CA351790522 RCV002531890 |
323 | V>I | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs779431997 RCV001350321 CA2255074 COSM1036191 |
328 | S>L | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1697624889 RCV001325642 |
331 | S>G | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749240316 VAR_073855 CA200219 RCV000172996 |
334 | A>P | Myoclonic-atonic epilepsy MAE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001034465 RCV001759928 rs749240316 |
334 | A>S | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001003582 rs749240316 CA2255081 RCV000812723 |
334 | A>T | Myoclonic-atonic epilepsy Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001092968 rs760836450 RCV001047605 COSM1226506 CA2255087 |
342 | V>M | Myoclonic-atonic epilepsy large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1697627975 RCV001039235 |
345 | M>T | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697630365 RCV001300071 RCV001773606 |
356 | V>M | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652590 RCV001092969 rs1553689859 CA351790754 |
357 | A>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691302 RCV002274042 RCV000494060 RCV001382403 CA351790791 |
362 | G>R | Myoclonic-atonic epilepsy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001214787 rs1697748409 |
367 | A>T | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243011 TCGA novel rs1697751144 |
383 | I>V | Myoclonic-atonic epilepsy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001092970 RCV000622468 CA351791022 rs1553690452 |
397 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2255172 RCV002509511 RCV000687678 rs759515813 |
405 | I>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001788374 RCV001008265 rs1574913614 RCV000844999 |
408 | L>missing | Myoclonic-atonic epilepsy SLC6A1-Related Disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs112095333 RCV001079153 CA2255177 RCV000439968 RCV002314130 |
415 | L>I | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2255180 rs191293931 RCV002315024 RCV000544968 RCV000734754 |
417 | R>H | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000559769 rs1553690583 |
419 | R>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652594 CA70136676 rs910130675 |
419 | R>C | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM289896 rs941588071 CA70136679 RCV000697100 |
419 | R>H | Myoclonic-atonic epilepsy Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000810500 rs941588071 CA351791180 |
419 | R>L | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200670508 RCV002534972 RCV002317517 CA2255184 |
434 | I>M | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001048468 rs1697891755 |
443 | G>D | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1697891755 RCV001267259 |
443 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574917501 RCV000821197 |
446 | V>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218652 CA2255211 rs781635525 |
448 | K>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000624663 CA351791407 rs1553691122 |
451 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000209830 CA353409 rs869312680 |
451 | D>G | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207381 rs1697893468 |
456 | S>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876657401 RCV000172997 |
457 | G>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795099 CA351791465 CA16617801 RCV000487237 RCV000691239 RCV000850413 |
459 | S>R | Marfanoid habitus and intellectual disability Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051289 rs1697894833 |
464 | V>E | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559636673 CA351791520 RCV000698343 |
468 | C>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1698020197 RCV001352107 |
476 | G>D | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745529755 RCV000652593 RCV002269300 CA351791607 |
479 | R>* | Myoclonic-atonic epilepsy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771439149 CA2255233 RCV000652592 RCV002388145 |
479 | R>Q | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1698021866 RCV001235590 |
487 | M>I | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806609 rs1574922559 |
487 | M>Q | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559639240 CA351791667 RCV000690075 |
487 | M>T | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228197 RCV000997994 CA351791751 rs1574922621 |
499 | C>Y | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001261157 rs1698023156 |
500 | W>* | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324162 CA70139207 rs1029475140 |
502 | F>L | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1698023649 RCV001220078 |
505 | P>A | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs529455113 RCV000811809 CA2255238 |
506 | I>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA351791808 RCV000802130 rs1574922686 |
507 | I>T | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001334110 rs769577441 CA2255239 |
509 | A>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000517929 rs1064794981 RCV002274039 CA16617802 RCV000816085 COSM1495338 RCV000485887 |
511 | V>M | kidney Myoclonic-atonic epilepsy Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001317596 rs372892801 CA2255277 |
520 | T>M | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA351791988 rs1559640454 RCV002314545 |
532 | W>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1698067665 RCV001038318 |
533 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1698067880 RCV001257717 |
534 | Q>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1698068785 RCV001058822 |
547 | L>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351792088 rs1559640513 RCV000685376 |
547 | L>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10602860 RCV001861537 rs886042046 RCV001007935 VAR_086255 RCV000987115 CA16604437 RCV000286162 RCV000440443 |
550 | G>R | Global developmental delay Myoclonic-atonic epilepsy found in a patient with generalized epilepsy; unknown pathological significance; complete loss of GABA transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
|
RCV001337690 rs1368412515 |
552 | M>K | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA351792128 rs1559640572 RCV000700919 |
553 | A>D | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139846326 CA2255283 RCV001229596 RCV002402718 |
555 | M>V | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1574925115 RCV000822273 CA351792179 |
561 | G>S | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2255308 RCV003117549 RCV000762366 rs767142926 |
566 | R>H | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1574929097 RCV000850604 |
571 | V>missing | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145387062 CA2255312 RCV001320293 |
574 | S>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553692346 CA351792289 RCV000652591 |
575 | E>V | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2255315 rs369359690 RCV001034470 RCV002552443 |
578 | V>I | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001068236 rs747243516 |
580 | P>A | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002544808 RCV001570217 rs747243516 CA2255318 RCV000688323 |
580 | P>S | Myoclonic-atonic epilepsy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001033992 rs1698165532 |
583 | G>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209019 rs1698165983 |
585 | E>Q | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA70140907 rs956462752 RCV001294264 |
591 | S>R | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1698167143 RCV001244328 |
593 | T>P | Myoclonic-atonic epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs913073947 CA70129819 |
2 | A>E | No |
ClinGen TOPMed |
|
|
CA351787968 rs1297686453 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs551940721 CA70129840 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551940721 CA2254772 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787992 rs1216515269 |
6 | S>G | No |
ClinGen gnomAD |
|
|
CA2254773 rs758058195 |
6 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA351788011 rs1574890660 |
8 | V>G | No |
ClinGen Ensembl |
|
|
rs751108300 CA2254775 |
10 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351788057 rs1385319298 |
16 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2254779 rs755910025 |
18 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA351788083 rs1379281802 |
19 | E>D | No |
ClinGen gnomAD |
|
|
CA2254780 rs777727228 |
19 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA351788079 rs1490096672 |
19 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs749474714 CA2254781 |
20 | A>T | No |
ClinGen ExAC |
|
|
rs148916460 CA2254782 |
21 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 22 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395387100 CA351788131 |
27 | P>S | No |
ClinGen gnomAD |
|
|
rs1271404941 CA351788155 |
30 | L>F | No |
ClinGen gnomAD |
|
|
rs767066259 RCV000997990 CA351788174 |
33 | K>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA351788180 rs1248231234 |
34 | V>G | No |
ClinGen gnomAD |
|
|
rs772101722 CA2254785 |
34 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs896043314 CA70129910 |
37 | K>E | No |
ClinGen TOPMed |
|
|
CA70129913 rs950369271 |
37 | K>T | No |
ClinGen TOPMed |
|
|
rs1559621728 CA351788205 |
38 | A>S | No |
ClinGen Ensembl |
|
|
rs866130390 CA70129917 |
39 | A>S | No |
ClinGen TOPMed |
|
|
CA70129914 rs866130390 |
39 | A>T | No |
ClinGen TOPMed |
|
|
rs1574890942 CA351788216 |
40 | D>A | No |
ClinGen Ensembl |
|
|
CA351788213 rs1353258550 |
40 | D>N | No |
ClinGen gnomAD |
|
|
CA70129928 rs867819157 |
42 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2254789 rs371207948 |
43 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351788232 rs764382700 |
43 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762550927 CA2254790 |
46 | T>M | No |
ClinGen ExAC gnomAD |
|
|
RCV001268603 rs1697194864 |
50 | R>missing | No |
ClinVar dbSNP |
|
|
RCV001268605 rs1697195588 |
52 | D>E | No |
ClinVar dbSNP |
|
|
rs1697195476 RCV001268604 |
52 | D>V | No |
ClinVar dbSNP |
|
|
rs1697195703 RCV001268606 |
53 | F>S | No |
ClinVar dbSNP |
|
|
rs1017069383 CA70129977 |
54 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 58 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 63 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000483632 rs1064795392 CA16617795 |
66 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351788389 rs1479789276 |
67 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1574891189 CA351788413 |
70 | F>V | No |
ClinGen Ensembl |
|
|
RCV000578848 CA351788446 rs139045747 |
74 | C>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779183994 CA2254801 |
76 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254802 rs772122812 |
77 | N>D | No |
ClinGen ExAC |
|
|
rs1553687907 RCV000519416 CA351788477 |
79 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351788517 rs1192885540 |
84 | I>F | No |
ClinGen gnomAD |
|
|
rs750214635 COSM177362 CA2254836 |
87 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1574892295 CA351788629 |
97 | L>R | No |
ClinGen Ensembl |
|
|
CA16040605 rs144322561 COSM109912 RCV000413676 |
105 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1697222986 RCV001310473 |
105 | G>V | No |
ClinVar dbSNP |
|
|
CA351788765 rs1270312556 |
110 | I>V | No |
ClinGen TOPMed |
|
|
rs188106302 CA2254849 |
119 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs759369840 | 124 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351789009 rs1465289965 |
129 | A>S | No |
ClinGen TOPMed |
|
|
rs200847991 CA2254878 |
130 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA351789018 rs1405955067 |
130 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200747391 CA351789045 |
133 | S>P | No |
ClinGen TOPMed |
|
|
rs1249768983 CA351789217 |
138 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 141 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254882 rs746202904 |
142 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254883 rs758882006 |
156 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1574894136 CA351789343 |
156 | T>P | No |
ClinGen Ensembl |
|
|
rs1436116601 CA351789351 |
157 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351789366 rs1167973007 |
158 | T>P | No |
ClinGen gnomAD |
|
|
rs1403246922 CA351789380 |
160 | P>L | No |
ClinGen gnomAD |
|
|
CA70131389 rs866824272 |
160 | P>S | No |
ClinGen Ensembl |
|
|
CA351789401 rs1365990624 |
163 | Q>* | No |
ClinGen gnomAD |
|
|
rs748779390 CA2254907 |
165 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA70131415 rs962077031 |
167 | P>R | No |
ClinGen TOPMed |
|
|
CA351789430 rs1226863842 |
167 | P>S | No |
ClinGen gnomAD |
|
|
RCV000487344 rs1064795662 |
170 | T>missing | No |
ClinVar dbSNP |
|
|
rs778818301 CA2254909 |
172 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745810197 CA2254910 |
172 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771708976 CA2254911 |
174 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351789509 rs1291289201 |
178 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs34299874 CA351789515 |
179 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351789528 rs1225181134 |
181 | N>D | No |
ClinGen gnomAD |
|
|
CA351789534 rs1437236428 |
181 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351789540 rs1157699026 |
182 | T>S | No |
ClinGen gnomAD |
|
|
rs1339428801 CA351789570 |
186 | T>I | No |
ClinGen TOPMed |
|
|
rs777042444 CA2254915 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1023210365 CA70131442 |
190 | V>M | No |
ClinGen TOPMed |
|
|
rs769934894 CA2254936 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1478161257 CA351789648 |
196 | N>S | No |
ClinGen TOPMed |
|
|
rs1031299891 CA351789653 |
197 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1031299891 CA70132437 |
197 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1692386 RCV000762362 CA351789670 rs1559626646 |
199 | Q>* | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA351789672 rs1559626654 RCV000762363 |
199 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2254940 rs146894194 |
202 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254942 rs761767066 |
206 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057524500 CA16604345 RCV000430860 |
209 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351789747 rs1574901084 |
210 | I>T | No |
ClinGen Ensembl |
|
|
CA2254944 rs756927822 |
211 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs764688478 CA2254945 |
211 | R>H | No |
ClinGen ExAC |
|
|
CA2254950 rs754749693 |
220 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351789804 rs1343956853 |
220 | I>N | No |
ClinGen gnomAD |
|
|
CA2254953 rs558678747 |
221 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773620829 CA2254954 |
221 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2254955 rs776053607 |
223 | I>N | No |
ClinGen ExAC |
|
| TCGA novel | 227 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351789903 rs1266545773 |
234 | G>D | No |
ClinGen gnomAD |
|
| VAR_086250 | 235 | W>R | found in a patient with intractable absence epilepsy; unknown pathological significance; retains about 27% of wild-type GABA transporter activity [UniProt] | No | UniProt |
|
rs1574901313 CA351789916 |
236 | T>A | No |
ClinGen Ensembl |
|
|
rs1416438613 CA351789965 |
241 | Y>* | No |
ClinGen gnomAD |
|
|
rs1470279375 CA351789962 |
241 | Y>S | No |
ClinGen TOPMed |
|
|
CA351789969 rs1399297934 |
242 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1574906423 CA351789991 |
245 | T>I | No |
ClinGen Ensembl |
|
|
RCV000782084 CA351789999 rs1559629701 CA351789998 RCV000997993 |
246 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs929193466 CA70133997 |
246 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254988 rs752750805 |
257 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254989 rs536009666 |
257 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351790086 rs1285544283 |
260 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1261369768 CA351790109 |
264 | A>T | No |
ClinGen gnomAD |
|
|
CA70134063 rs1027128426 |
266 | E>G | No |
ClinGen TOPMed |
|
|
CA2255000 rs377383740 |
277 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2255002 rs752396911 |
277 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752396911 CA351790202 |
277 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254999 rs377383740 |
277 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255005 rs752628074 |
280 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA351790255 rs1559630133 |
284 | V>M | No |
ClinGen Ensembl |
|
|
rs1574907159 CA351790280 |
287 | D>G | No |
ClinGen Ensembl |
|
|
rs750584676 CA2255028 |
293 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351790372 rs1574907293 |
302 | S>A | No |
ClinGen Ensembl |
|
|
CA16604436 RCV000439799 rs896013015 |
310 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA351790429 rs746489008 |
311 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013079805 CA70134284 |
311 | S>C | No |
ClinGen gnomAD |
|
|
rs746489008 CA2255040 |
311 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351790428 rs746489008 |
311 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168570623 CA351790446 |
313 | H>Q | No |
ClinGen TOPMed |
|
|
rs749524297 CA70134315 |
317 | Y>C | No |
ClinGen Ensembl |
|
|
rs1340885622 CA351790470 |
317 | Y>H | No |
ClinGen gnomAD |
|
|
rs1697602793 RCV001092967 |
318 | R>G | No |
ClinVar dbSNP |
|
|
rs143064740 CA2255072 |
321 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351790521 rs757627416 |
322 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300691896 CA351790550 |
326 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899376846 CA70134631 |
331 | S>N | No |
ClinGen Ensembl |
|
|
CA351790590 COSM3364930 rs1320853236 CA351790592 |
332 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs867226042 CA70134644 |
332 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759289904 CA2255084 |
337 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2255085 rs772320700 |
341 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1467803020 CA351790681 |
346 | A>S | No |
ClinGen gnomAD |
|
|
COSM180775 rs1370388144 CA351790689 |
347 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2255093 rs758737980 |
350 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70134746 rs996124680 |
352 | S>T | No |
ClinGen Ensembl |
|
|
CA2255095 rs752412616 |
353 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2255096 rs755552475 |
354 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000486080 rs1064796533 |
358 | A>missing | No |
ClinVar dbSNP |
|
|
CA351790762 rs1574908722 |
359 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000519938 rs1553690421 |
363 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000521232 CA351790817 rs1410013974 |
366 | L>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1574912765 CA351790830 |
368 | Y>S | No |
ClinGen Ensembl |
|
|
CA2255125 rs748224785 |
371 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351790860 rs1574912795 |
373 | T>P | No |
ClinGen Ensembl |
|
|
CA351790874 rs1267625924 |
375 | L>M | No |
ClinGen gnomAD |
|
|
CA2255129 rs141895429 |
377 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351790904 rs1559633486 |
380 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 387 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70136332 rs756588080 |
390 | L>F | No |
ClinGen Ensembl |
|
|
RCV000782024 rs1559633512 CA351790993 |
393 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1559634108 RCV000762365 |
407 | A>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 407 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2255173 rs775746461 |
409 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437275078 CA351791121 |
410 | D>H | No |
ClinGen gnomAD |
|
|
CA351791120 rs1437275078 |
410 | D>N | No |
ClinGen gnomAD |
|
|
CA2255175 rs769305369 |
411 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 411 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239946615 CA351791138 |
412 | Y>C | No |
ClinGen TOPMed |
|
|
rs150117223 CA2255178 |
416 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1616701 rs774371133 CA2255179 |
417 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2255181 rs767605261 |
418 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1336580011 CA351791174 |
418 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 426 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755995055 CA2255183 |
426 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351791228 rs1553690592 |
427 | V>I | No |
ClinGen Ensembl |
|
|
rs1559634280 CA351791243 |
429 | I>V | No |
ClinGen Ensembl |
|
|
CA351791255 rs762866574 |
430 | I>M | No |
ClinGen TOPMed |
|
|
CA351791257 rs1553690597 RCV000658955 |
431 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA351791275 rs1308650414 |
434 | I>F | No |
ClinGen gnomAD |
|
|
RCV000497778 rs1553690601 |
437 | S>missing | No |
ClinVar dbSNP |
|
|
rs747554856 CA2255209 |
442 | G>R | No |
ClinGen ExAC gnomAD |
|
| VAR_086253 | 445 | Y>C | found in a patient with generalized epilepsy; unknown pathological significance; retains about 6% of wild-type GABA transporter activity [UniProt] | No | UniProt |
| TCGA novel | 447 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250989201 CA351791380 |
448 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351791412 rs1189070900 |
452 | Y>C | No |
ClinGen TOPMed |
|
|
rs1431889531 CA351791451 |
458 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143170700 CA2255212 |
464 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745368415 CA2255215 |
470 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2255216 rs771617574 |
471 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1410915444 CA351791549 |
472 | S>F | Variant assessed as Somatic; 4.769e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1328806521 CA351791575 |
476 | G>S | No |
ClinGen gnomAD |
|
|
CA2255231 rs778641975 |
478 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs758351251 CA70139186 |
480 | F>I | No |
ClinGen Ensembl |
|
|
rs746543984 CA2255235 |
481 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 482 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 483 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351791636 rs1389988481 |
483 | N>S | No |
ClinGen gnomAD |
|
|
rs1359645826 CA351791651 |
485 | Q>R | No |
ClinGen TOPMed |
|
|
rs1574922567 CA351791687 |
490 | S>C | No |
ClinGen Ensembl |
|
|
CA351791702 rs1174377306 |
492 | P>L | No |
ClinGen TOPMed |
|
|
CA351791712 rs1455662012 |
494 | I>V | No |
ClinGen TOPMed |
|
| VAR_086254 | 496 | W>del | found in a patient with generalized epilepsy; unknown pathological significance; complete loss of GABA transporter activity [UniProt] | No | UniProt |
|
CA2255236 rs768612248 |
497 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs757705427 CA70139200 |
498 | L>I | No |
ClinGen Ensembl |
|
|
rs776605535 CA2255237 |
501 | S>C | No |
ClinGen ExAC |
|
|
rs1173232160 CA351791772 |
502 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 503 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 504 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559639305 CA351791796 |
505 | P>L | No |
ClinGen Ensembl |
|
|
rs1419824827 CA351791804 |
507 | I>V | No |
ClinGen TOPMed |
|
|
rs1574924821 CA351791842 |
511 | V>G | No |
ClinGen Ensembl |
|
|
CA70139766 VAR_055088 rs17855574 |
521 | P>Q | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 528 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70139773 rs964021583 |
531 | K>M | No |
ClinGen Ensembl |
|
| TCGA novel | 531 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 533 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351792011 rs774576588 |
535 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351792010 rs774576588 |
535 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255279 rs774576588 |
535 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 541 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351792081 rs1470865311 |
546 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1424022379 CA351792087 |
547 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 549 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429079016 CA351792122 |
552 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351792120 rs1368412515 |
552 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351792117 rs1382830522 |
552 | M>V | No |
ClinGen TOPMed |
|
|
rs755011081 CA70139801 |
555 | M>T | No |
ClinGen TOPMed |
|
|
rs764687774 CA2255284 |
558 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942966236 CA70140857 |
566 | R>C | No |
ClinGen TOPMed |
|
|
CA351792244 rs1193651446 |
569 | V>I | No |
ClinGen gnomAD |
|
|
rs1243585923 CA351792264 |
571 | V>G | No |
ClinGen gnomAD |
|
|
rs1310731669 CA351792259 |
571 | V>I | No |
ClinGen gnomAD |
|
|
CA351792269 rs1471788034 |
572 | Q>R | No |
ClinGen gnomAD |
|
|
CA2255311 rs760120415 |
573 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760120415 CA2255310 |
573 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1417306487 CA351792280 |
574 | S>N | No |
ClinGen gnomAD |
|
|
rs1167454463 CA351792304 |
577 | I>T | No |
ClinGen gnomAD |
|
|
RCV000432379 rs369359690 CA16603217 |
578 | V>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758338858 CA2255316 |
579 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2255317 rs780352868 COSM1226505 |
579 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1274193602 CA351792341 |
583 | G>V | No |
ClinGen TOPMed |
|
|
CA351792344 rs1206062183 |
584 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 586 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334994331 CA351792365 |
587 | P>A | No |
ClinGen gnomAD |
|
|
rs781158800 CA2255320 |
589 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1294166381 CA351792400 |
592 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1294166381 CA351792401 |
592 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1294166381 CA351792399 |
592 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773826417 CA2255323 |
594 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 595 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142428144 CA2255325 |
596 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258130231 CA351792440 |
598 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2255328 rs566659046 |
599 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with P30531
[MIM: 616421]: Myoclonic-atonic epilepsy (MAE)
A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. {ECO:0000269|PubMed:25865495, ECO:0000269|PubMed:30132828}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. {ECO:0000269|PubMed:25865495, ECO:0000269|PubMed:30132828}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P30531
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P30531 | |||
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| integral component of membrane | The component of a 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. |
| 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. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| integral component of presynaptic membrane | The component of the presynaptic 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| gamma-aminobutyric acid transmembrane transporter activity | Enables the transfer of gamma-aminobutyric acid from one side of a membrane to the other. Gamma-aminobutyric acid is 4-aminobutyrate (GABA). |
| gamma-aminobutyric acid:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: gamma-aminobutyric acid(out) + Na+(out) + Cl-(out) = gamma-aminobutyric acid(in) + Na+(in) + Cl(in). |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| sodium:chloride symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + Cl-(out) = Na+(in) + Cl-(in). |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| associative learning | Learning by associating a stimulus (the cause) with a particular outcome (the effect). |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| gamma-aminobutyric acid import | The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a cell or organelle. |
| gamma-aminobutyric acid reuptake | The uptake of gamma-aminobutyric acid (GABA, 4-aminobutyrate) by neurons or glial cells. This process leads to inactivation and recycling of neurotransmitters. |
| inorganic anion import across plasma membrane | The directed movement of inorganic anions from outside of a cell, across the plasma membrane and into the cytosol. |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| negative regulation of synaptic transmission, GABAergic | Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). |
| positive regulation of gamma-aminobutyric acid secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. |
| response to calcium ion | 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 calcium ion stimulus. |
| response to cocaine | 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 cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant. |
| response to estradiol | 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 stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| response to inorganic substance | 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 inorganic substance stimulus. |
| response to lead ion | 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 lead ion stimulus. |
| response to purine-containing compound | 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 purine-containing compound stimulus. |
| response to sucrose | 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 sucrose stimulus. |
| response to toxic substance | 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 toxic stimulus. |
| sodium ion import across plasma membrane | The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| synapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18875 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Bos taurus (Bovine) | PR |
| Q9MZ34 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Bos taurus (Bovine) | PR |
| Q9W4C5 | NAAT1 | Sodium-dependent nutrient amino acid transporter 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q9UN76 | SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Homo sapiens (Human) | PR |
| Q9Y345 | SLC6A5 | Sodium- and chloride-dependent glycine transporter 2 | Homo sapiens (Human) | PR |
| Q9H1V8 | SLC6A17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Homo sapiens (Human) | PR |
| P48029 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Homo sapiens (Human) | PR |
| Q9NSD5 | SLC6A13 | Sodium- and chloride-dependent GABA transporter 2 | Homo sapiens (Human) | PR |
| P48066 | SLC6A11 | Sodium- and chloride-dependent GABA transporter 3 | Homo sapiens (Human) | PR |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Homo sapiens (Human) | PR |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| P23975 | SLC6A2 | Sodium-dependent noradrenaline transporter | Homo sapiens (Human) | PR |
| O35316 | Slc6a6 | Sodium- and chloride-dependent taurine transporter | Mus musculus (Mouse) | PR |
| P31650 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Mus musculus (Mouse) | PR |
| Q9JMA9 | Slc6a14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Mus musculus (Mouse) | PR |
| Q8VBW1 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Mus musculus (Mouse) | PR |
| Q761V0 | Slc6a5 | Sodium- and chloride-dependent glycine transporter 2 | Mus musculus (Mouse) | PR |
| P31649 | Slc6a13 | Sodium- and chloride-dependent GABA transporter 2 | Mus musculus (Mouse) | PR |
| P31648 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Mus musculus (Mouse) | PR |
| P31647 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Rattus norvegicus (Rat) | PR |
| P28570 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Rattus norvegicus (Rat) | PR |
| P23978 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Rattus norvegicus (Rat) | PR |
| O76689 | snf-6 | Sodium-dependent acetylcholine transporter | Caenorhabditis elegans | PR |
| G5EBN9 | snf-3 | Sodium- and chloride-dependent betaine transporter | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATNGSKVAD | GQISTEVSEA | PVANDKPKTL | VVKVQKKAAD | LPDRDTWKGR | FDFLMSCVGY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AIGLGNVWRF | PYLCGKNGGG | AFLIPYFLTL | IFAGVPLFLL | ECSLGQYTSI | GGLGVWKLAP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MFKGVGLAAA | VLSFWLNIYY | IVIISWAIYY | LYNSFTTTLP | WKQCDNPWNT | DRCFSNYSMV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NTTNMTSAVV | EFWERNMHQM | TDGLDKPGQI | RWPLAITLAI | AWILVYFCIW | KGVGWTGKVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YFSATYPYIM | LIILFFRGVT | LPGAKEGILF | YITPNFRKLS | DSEVWLDAAT | QIFFSYGLGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSLIALGSYN | SFHNNVYRDS | IIVCCINSCT | SMFAGFVIFS | IVGFMAHVTK | RSIADVAASG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PGLAFLAYPE | AVTQLPISPL | WAILFFSMLL | MLGIDSQFCT | VEGFITALVD | EYPRLLRNRR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELFIAAVCII | SYLIGLSNIT | QGGIYVFKLF | DYYSASGMSL | LFLVFFECVS | ISWFYGVNRF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YDNIQEMVGS | RPCIWWKLCW | SFFTPIIVAG | VFIFSAVQMT | PLTMGNYVFP | KWGQGVGWLM |
| 550 | 560 | 570 | 580 | 590 | |
| ALSSMVLIPG | YMAYMFLTLK | GSLKQRIQVM | VQPSEDIVRP | ENGPEQPQAG | SSTSKEAYI |