P11230
PR
Gene name |
CHRNB1 (ACHRB, CHRNB) |
Protein name |
Acetylcholine receptor subunit beta |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1140 |
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
Autoinhibited structure
Activated structure
1 structures for P11230
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P11230-F1 | Predicted | AlphaFoldDB |
455 variants for P11230
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1064795835 RCV002526631 RCV000482140 |
1 | M>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1908543374 RCV001238196 |
11 | G>R | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658798713 rs1555551699 RCV000653238 |
13 | L>M | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003145170 rs75926342 RCV000811736 CA8347603 |
15 | A>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed ClinGen ClinVar dbSNP |
|
rs534380483 RCV000690025 RCV001123512 CA8347604 |
18 | A>G | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8347624 rs775150297 RCV001226893 |
21 | V>I | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA152393 RCV000116727 VAR_048169 RCV000329220 rs17856697 RCV000989695 |
32 | E>G | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV000626247 RCV000706943 CA8347649 rs759668768 |
56 | V>A | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1908562302 RCV001350080 |
62 | Q>P | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761035556 CA8347652 RCV000796589 RCV003144602 |
63 | L>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001304809 rs1908599255 |
72 | E>K | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001365073 rs140556296 CA8347685 RCV000381807 |
77 | V>M | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA8347687 RCV001226291 rs142801700 RCV001124594 |
79 | L>S | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000795636 rs373533921 CA287422763 |
80 | D>E | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ESP TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs766823872 CA8347698 RCV001784314 RCV000690484 |
83 | W>* | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1555551838 RCV000653242 CA397788997 |
86 | Y>C | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8347705 RCV000376909 rs753646145 |
93 | A>G | Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778968747 RCV001308751 CA8347707 |
96 | D>Y | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA287423831 rs1028687450 RCV001337345 |
101 | L>P | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs953970739 RCV001299940 CA287423837 |
102 | R>C | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8347712 RCV000284756 RCV000878558 rs201915086 |
102 | R>P | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA287423881 rs866965972 RCV000817093 |
105 | A>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002534347 CA8347721 RCV000698076 RCV003144543 rs149433073 RCV001124596 |
114 | V>M | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327284 CA8347722 rs757084012 |
115 | L>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1460616970 RCV001230031 |
116 | L>P | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs961261483 CA287424675 RCV001321800 |
158 | F>L | Variant assessed as Somatic; 0.0 impact. Congenital myasthenic syndrome 2A [NCI-TCGA, ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
COSM1679474 CA8347793 rs766657460 RCV001796369 RCV001124597 |
161 | D>N | Congenital myasthenic syndrome 4C large_intestine [ClinVar, Cosmic] | Yes |
ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP |
|
RCV001851428 RCV003144301 rs1284035468 RCV002525024 RCV000516758 CA397792614 |
167 | M>T | Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002563873 rs755445802 CA8347795 RCV001236868 |
167 | M>V | Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000686397 CA397792671 rs1567677415 |
169 | F>C | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
CA8347800 RCV000778516 RCV000559003 rs201033437 |
172 | Y>* | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002521121 rs555348704 RCV000336419 RCV003144210 CA8347812 RCV001411401 |
189 | G>R | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA8347816 rs756513117 RCV001042129 |
191 | G>E | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000691341 rs376604413 CA8347817 |
193 | Q>R | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8347818 rs76251791 RCV001785691 RCV000653241 |
198 | H>R | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000778517 rs1447564693 RCV002535635 |
203 | I>missing | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397793404 rs1186710796 RCV001048836 |
203 | I>T | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1908757011 RCV001338796 |
211 | I>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200684767 CA8347845 RCV000547812 RCV001579413 |
216 | R>Q | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002554827 CA8347844 rs780988754 RCV001091167 |
216 | R>W | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000359223 CA10640476 rs886053399 |
227 | G>E | Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1908762801 RCV001195894 |
230 | G>missing | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001195895 rs1908762515 |
230 | G>missing | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8347863 rs202080837 RCV000803097 |
232 | R>L | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000996473 CA287425851 RCV000823091 rs200962487 |
242 | R>C | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
COSM216405 CA8347871 rs79220301 RCV000871471 |
242 | R>H | pancreas Congenital myasthenic syndrome 2A [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001036810 rs79220301 |
242 | R>L | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8347872 RCV000522217 RCV000559793 rs199875082 |
243 | R>C | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs200409941 CA8347873 RCV000536107 RCV003144366 |
243 | R>H | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000805961 CA397794729 rs751045224 |
252 | V>F | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001125764 rs751045224 RCV001431384 RCV003163284 CA8347877 |
252 | V>I | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1908768345 RCV001325028 |
259 | I>F | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215664 rs1908769177 |
265 | F>V | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339402 rs1908769664 |
267 | F>L | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794860 rs749302262 CA8347883 |
270 | P>T | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_000287 CA128075 rs137852811 RCV000020041 |
285 | L>M | Congenital myasthenic syndrome 2A CMS2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001066761 VAR_077363 rs1908994498 |
289 | V>A | Congenital myasthenic syndrome 2A CMS2A; slow-channel mutation; increases gating equilibrium constant by 33-fold, owing to increased opening rate and decreased closing rate; no effect on the choline dissociation rate constant [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
VAR_000288 CA128074 RCV000726984 RCV000020040 rs137852810 |
289 | V>M | Congenital myasthenic syndrome 2A CMS2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA287431080 RCV001220092 rs945086307 |
300 | E>Q | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002536934 CA287431104 RCV003144587 rs372910299 RCV000791965 |
305 | V>G | Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1908998622 RCV001054518 |
319 | V>A | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753646298 RCV001044143 CA8347921 |
319 | V>I | Variant assessed as Somatic; 0.0 impact. Congenital myasthenic syndrome 2A [NCI-TCGA, ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
CA287431185 rs865958957 RCV001323640 |
328 | V>M | Congenital myasthenic syndrome 2A Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
TOPMed ClinGen ClinVar NCI-TCGA dbSNP |
|
RCV001372158 CA8347930 rs749634279 RCV000397942 |
332 | L>R | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779467380 CA8347932 RCV000540432 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. Congenital myasthenic syndrome 2A [NCI-TCGA, ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
rs775070102 RCV000701221 CA8347935 |
339 | T>A | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1909001767 RCV001067280 |
342 | M>I | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8347936 rs760292772 RCV001207171 |
343 | P>T | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA8347939 rs371142002 RCV000815146 |
347 | R>H | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8347970 RCV000698892 rs780673811 |
355 | P>S | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs886053402 CA10640479 RCV000365724 |
363 | P>T | Congenital myasthenic syndrome 4C [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
rs150290595 CA8347985 RCV001756105 RCV000653239 |
376 | C>R | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV001207791 rs2069939028 |
393 | R>G | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397801713 RCV000698631 rs1199729169 |
404 | P>S | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8348020 RCV000873666 RCV000362114 RCV000418759 rs202144045 |
409 | P>A | Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 2A [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000116724 RCV000276935 RCV000545697 CA152389 rs76927517 |
420 | I>T | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA8348025 RCV001122101 RCV001211442 RCV002556628 RCV003145354 rs138920330 |
423 | P>Q | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C Inborn genetic diseases [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000802349 rs1239393228 |
431 | P>missing | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003145196 RCV000818284 rs754895386 CA8348035 |
441 | S>G | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_017494 | 449 | E>del | CMS2C; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits [UniProt] | Yes | UniProt |
|
COSM707233 RCV001122102 rs746049604 CA8348040 |
450 | Q>K | lung Congenital myasthenic syndrome 4C [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
RCV003145557 rs777159945 CA8348048 RCV002545086 RCV001315750 |
455 | A>E | Congenital myasthenic syndrome 2A Inborn genetic diseases [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs201776800 CA8348064 RCV001124874 RCV001447421 |
465 | M>T | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
CA8348067 RCV000816496 RCV003145191 rs762250406 |
469 | R>L | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs148533702 CA8348072 RCV000876790 RCV003145223 RCV001124875 |
475 | F>S | Congenital myasthenic syndrome 2A Congenital myasthenic syndrome 4C [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216416 rs1205517699 CA397803223 |
481 | V>F | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA287433245 rs369847025 RCV000696820 |
483 | T>I | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ESP TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000694622 rs747251351 CA8348081 |
494 | L>F | Congenital myasthenic syndrome 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs567015720 CA8347593 |
2 | T>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8347595 rs781729431 |
5 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1157224283 CA397786246 |
9 | L>P | No |
TOPMed ClinGen |
|
|
CA397786257 rs1173578455 |
10 | L>M | No |
gnomAD ClinGen |
|
|
CA8347599 rs778455935 |
14 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA8347601 rs748784992 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397786377 rs1260531078 |
16 | P>L | No |
ClinGen TOPMed |
|
|
CA397786380 rs1310386629 |
17 | L>F | No |
gnomAD ClinGen |
|
|
CA397786422 rs1386265204 |
18 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA397786425 rs1386265204 |
18 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
rs534380483 CA397786437 |
18 | A>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 19 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397786451 rs759176796 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8347605 rs759176796 |
19 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397786442 rs1233718343 |
19 | P>T | No |
gnomAD ClinGen |
|
|
CA397786454 rs1339796774 |
20 | G>R | No |
ClinGen gnomAD |
|
|
CA397786561 rs1351758874 |
22 | R>L | No |
ClinGen gnomAD |
|
|
rs1462019275 CA397786563 |
23 | G>S | No |
gnomAD ClinGen |
|
|
rs768484065 CA8347626 |
24 | S>W | No |
ExAC gnomAD ClinGen |
|
|
CA397786587 rs1437050274 |
25 | E>K | No |
gnomAD ClinGen |
|
|
CA8347629 rs765236873 |
28 | G>D | No |
ExAC gnomAD ClinGen |
|
|
CA8347628 rs761717412 |
28 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759694228 CA8347631 |
29 | R>* | No |
ClinGen ExAC |
|
|
CA8347632 rs767799511 |
29 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207482508 CA397786768 |
30 | L>F | No |
ClinGen gnomAD |
|
|
rs1465940355 CA397786806 |
31 | R>W | No |
gnomAD ClinGen |
|
|
TCGA novel rs1243099988 CA397786843 COSM1386309 |
32 | E>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated TOPMed gnomAD NCI-TCGA |
|
CA397786870 rs1356808110 |
33 | K>R | No |
TOPMed ClinGen |
|
| TCGA novel | 35 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287421872 rs968038340 |
35 | F>V | No |
Ensembl ClinGen |
|
|
CA8347636 rs754354256 |
36 | S>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757646406 CA8347637 |
37 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA397787012 rs1184434149 |
38 | Y>F | No |
TOPMed gnomAD ClinGen |
|
|
rs777431654 RCV000731207 |
39 | D>missing | No |
ClinVar dbSNP |
|
|
rs1001271364 CA287421907 |
40 | S>I | No |
ClinGen Ensembl |
|
|
rs1395190033 CA397787205 |
43 | R>W | No |
ClinGen TOPMed |
|
|
rs1459065789 CA397787229 |
44 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1459065789 CA397787226 |
44 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA8347642 rs779654919 |
46 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746733626 CA8347643 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8347645 rs776235550 |
49 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1227275765 CA397787403 |
52 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397787461 rs1285849895 |
53 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
rs747983720 CA8347646 |
55 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA8347648 rs769579645 CA8347647 |
55 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10586031 rs879255346 RCV000238795 COSM1201131 |
56 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397787536 rs1442222274 |
57 | G>S | No |
gnomAD ClinGen |
|
|
CA397787554 rs1208378819 |
58 | L>F | No |
ClinGen gnomAD |
|
|
rs767744371 CA8347650 |
59 | I>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 61 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287422037 rs1015239523 |
61 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA397787671 rs1379766462 |
64 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs962389622 CA287422057 |
66 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA397788006 rs1196474523 |
67 | N>K | No |
gnomAD ClinGen |
|
|
rs1289301139 CA397788031 |
68 | E>D | No |
ClinGen gnomAD |
|
|
rs1344234057 CA397788026 |
68 | E>G | No |
gnomAD ClinGen |
|
|
CA8347680 rs751032324 |
68 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1449937608 CA397788094 |
71 | E>K | No |
gnomAD ClinGen |
|
|
rs754506936 CA8347681 |
72 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs752436749 CA8347683 |
74 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8347682 rs780686500 |
74 | S>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000401540 rs140556296 CA10604756 |
77 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA397788266 rs1388032885 |
81 | L>V | No |
ClinGen gnomAD |
|
|
rs763342607 CA8347697 |
82 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA397789010 rs1232285273 |
86 | Y>* | No |
ClinGen gnomAD |
|
|
rs752110148 CA8347699 |
88 | L>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8347700 rs758939802 |
89 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA8347702 rs555170218 |
90 | W>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8347703 rs755732708 |
91 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA8347704 rs755732708 |
91 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs373764198 CA8347706 |
94 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397789296 rs1597748945 |
95 | H>P | No |
Ensembl ClinGen |
|
|
CA397790381 rs1432288070 |
96 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745838344 CA8347708 |
97 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8347709 rs755005617 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1131691957 RCV000494140 |
99 | D>missing | No |
ClinVar dbSNP |
|
|
rs976605479 CA287423817 |
100 | S>L | No |
ClinGen gnomAD |
|
|
CA397790492 rs201915086 |
102 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370657868 CA287423847 |
103 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8347714 rs749632247 |
104 | T>M | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 105 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142549791 CA8347716 COSM3718513 |
105 | A>T | upper_aerodigestive_tract [Cosmic] | No |
1000Genomes ExAC gnomAD ClinGen cosmic curated |
|
rs1422680293 CA397790619 |
108 | V>A | No |
ClinGen TOPMed |
|
|
CA8347719 rs774997603 |
109 | W>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA287423924 rs774997603 |
109 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767921705 CA8347718 |
109 | W>L | No |
ExAC gnomAD ClinGen |
|
|
rs1165902371 CA397790631 |
109 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 112 | D>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397790748 rs1251426676 |
113 | V>M | No |
gnomAD ClinGen |
|
|
CA287423944 rs917329065 |
115 | L>P | No |
ClinGen Ensembl |
|
|
CA397790818 rs1460616970 |
116 | L>R | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 118 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287424126 rs1020753062 |
119 | N>S | No |
Ensembl ClinGen |
|
|
rs776217572 CA8347760 |
122 | N>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1218340985 CA397791164 |
124 | D>E | No |
ClinGen gnomAD |
|
|
rs761442846 CA8347761 |
124 | D>V | No |
ExAC gnomAD ClinGen |
|
|
VAR_070842 rs17856698 CA287424140 |
124 | D>Y | No |
Ensembl ClinGen UniProt dbSNP |
|
|
rs148584502 CA397791191 |
125 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs148584502 CA8347762 |
125 | V>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 127 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277483153 CA397791278 |
128 | D>Y | No |
TOPMed ClinGen |
|
|
rs772793418 CA8347763 |
129 | I>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8347764 rs762779280 |
129 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs998450498 CA287424188 |
130 | S>R | No |
ClinGen Ensembl |
|
|
CA287424189 rs578069408 |
131 | V>I | No |
ClinGen Ensembl |
|
|
CA397791459 rs1259781734 |
132 | V>A | No |
gnomAD ClinGen |
|
|
CA287424190 rs1028135504 |
133 | V>A | No |
gnomAD ClinGen |
|
|
rs766155515 CA8347765 |
134 | S>C | No |
ExAC gnomAD ClinGen |
|
|
rs142983471 CA287424227 |
135 | S>F | No |
ClinGen ESP TOPMed |
|
|
rs983967827 CA287424262 |
136 | D>E | No |
ClinGen TOPMed |
|
|
rs370702418 CA287424249 |
136 | D>G | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA8347766 rs146117123 |
136 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA287424246 rs146117123 |
136 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs555518291 CA287424266 |
137 | G>C | No |
ClinGen Ensembl |
|
|
rs1405842139 CA397791643 |
139 | V>E | No |
ClinGen TOPMed |
|
|
CA287424273 rs140086721 |
140 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8347768 rs140086721 |
140 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397791716 rs1355601445 |
141 | W>C | No |
gnomAD ClinGen |
|
|
rs753874135 CA397791751 |
143 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs753874135 CA287424287 |
143 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs753874135 CA8347770 |
143 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA397791791 rs1398806967 |
144 | P>L | No |
gnomAD ClinGen |
|
|
rs1246519580 CA397791792 |
145 | G>S | No |
TOPMed ClinGen |
|
|
CA397791811 rs1197633790 |
146 | I>T | No |
ClinGen TOPMed |
|
|
CA8347773 rs750646520 |
147 | Y>C | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 147 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311974433 CA397791874 |
148 | R>H | No |
gnomAD ClinGen |
|
|
CA397791972 rs1209427277 |
150 | S>T | No |
ClinGen gnomAD |
|
|
CA397792005 rs1216520245 |
151 | C>G | No |
TOPMed ClinGen |
|
|
rs1380345187 CA397792373 |
159 | P>R | No |
ClinGen TOPMed |
|
|
CA8347794 rs766657460 |
161 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328400943 CA397792455 |
162 | W>S | No |
ClinGen gnomAD |
|
|
rs267605070 CA287424700 |
165 | C>R | No |
Ensembl ClinGen |
|
|
rs1372140607 CA397792586 |
166 | T>A | No |
ClinGen gnomAD |
|
|
rs748731612 CA8347797 |
170 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8347798 rs201453432 |
171 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467350085 CA397792756 |
172 | Y>C | No |
ClinGen gnomAD |
|
|
rs774012484 CA8347802 |
174 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs745640319 CA8347804 |
175 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745640319 CA8347803 |
175 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1278787598 CA397792882 |
176 | S>T | No |
gnomAD ClinGen |
|
|
rs760659917 CA8347806 |
177 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8347807 rs764102652 |
178 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1475474681 CA397792908 |
178 | E>Q | No |
ClinGen gnomAD |
|
|
rs1414989155 CA397793071 |
184 | G>D | No |
ClinGen gnomAD |
|
|
CA8347809 rs763118770 |
185 | L>M | No |
ExAC gnomAD ClinGen |
|
|
CA287424802 rs1057285322 |
186 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
rs971899831 CA287424806 |
187 | P>T | No |
ClinGen Ensembl |
|
|
rs755394373 CA8347813 |
189 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768053327 CA8347814 |
190 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs753126699 CA8347815 |
191 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA397793253 rs1273988481 |
196 | H>Q | No |
gnomAD ClinGen |
|
|
rs76251791 CA287424842 |
198 | H>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8347819 CA397793322 rs149981394 |
200 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261134382 CA397793340 |
201 | T>A | No |
ClinGen TOPMed |
|
| rs754405279 | 204 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287425624 rs376872310 |
206 | G>S | No |
ESP gnomAD ClinGen |
|
|
rs778452352 CA8347838 |
208 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1338516656 CA397793702 |
208 | W>* | No |
ClinGen TOPMed |
|
|
rs1279157901 CA397793694 |
208 | W>R | No |
gnomAD ClinGen |
|
|
CA8347839 rs749948682 |
209 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1395827140 CA397793792 |
211 | I>T | No |
ClinGen gnomAD |
|
|
rs1330559735 CA397793801 |
212 | H>Y | No |
TOPMed ClinGen |
|
|
rs145674333 CA8347843 |
214 | P>H | No |
ESP ExAC gnomAD ClinGen |
|
|
CA287425684 rs145674333 |
214 | P>R | No |
ESP ExAC gnomAD ClinGen |
|
|
CA8347842 rs746760487 |
214 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555552004 RCV000523370 |
216 | R>missing | No |
ClinVar dbSNP |
|
|
CA397793907 rs780988754 |
216 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA397793956 rs1597750749 |
218 | I>T | No |
ClinGen Ensembl |
|
|
CA8347847 rs769869631 |
220 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs774509838 CA8347848 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs986752899 COSM4139818 CA287425730 |
223 | D>N | ovary [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs757402627 CA397794128 |
225 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs764583560 CA8347853 |
226 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754282990 CA8347854 |
227 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA397794210 rs762323487 |
228 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762323487 CA8347855 |
228 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397425495 CA397794246 |
229 | E>K | No |
gnomAD ClinGen |
|
|
rs76022493 CA8347858 |
230 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779650843 CA8347859 |
231 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1235005985 CA397794322 |
231 | Q>L | No |
ClinGen gnomAD |
|
|
rs751294067 CA8347861 |
232 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs202080837 CA8347862 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751294067 CA8347860 |
232 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8347864 rs769818319 |
234 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777878442 CA8347865 |
235 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1597750840 CA397794421 |
237 | F>S | No |
ClinGen Ensembl |
|
|
rs772315322 CA8347867 |
239 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251597989 CA397794466 |
240 | I>V | No |
gnomAD ClinGen |
|
|
rs895791816 CA397794508 |
241 | I>N | No |
gnomAD ClinGen |
|
|
rs895791816 CA287425850 |
241 | I>T | No |
ClinGen gnomAD |
|
|
CA397794528 rs199875082 |
243 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773750954 CA8347874 |
245 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1403831669 CA397794700 |
250 | V>D | No |
ClinGen TOPMed |
|
|
CA8347875 rs762446825 |
251 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA287425882 rs997977756 |
251 | N>S | No |
TOPMed ClinGen |
|
|
CA397794786 rs1202262413 |
254 | A>V | No |
ClinGen TOPMed |
|
|
CA397794844 rs1481010851 |
257 | I>F | No |
ClinGen TOPMed |
|
|
rs1597750951 CA397794912 |
260 | T>P | No |
ClinGen Ensembl |
|
|
CA8347881 rs756024598 |
264 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs1222717958 CA397795062 |
266 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1260675456 CA397795102 |
267 | F>S | No |
gnomAD ClinGen |
|
|
CA397795126 rs1485206184 |
268 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8347884 rs758535601 |
272 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1285960519 CA397795222 |
273 | A>V | No |
TOPMed ClinGen |
|
|
rs1064793087 RCV000482014 CA16620604 |
281 | I>M | No |
Ensembl ClinGen ClinVar dbSNP |
|
|
CA8347902 rs778746961 |
281 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs757194127 CA8347901 |
281 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8347903 rs201129045 |
283 | A>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 284 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277392931 CA397797314 |
287 | L>V | No |
ClinGen gnomAD |
|
|
CA397797391 rs1182223934 |
290 | F>S | No |
ClinGen TOPMed |
|
|
RCV000487098 CA16620605 rs1064795690 |
291 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA397797423 rs1310657626 |
292 | L>P | No |
ClinGen gnomAD |
|
|
CA8347909 rs781475180 |
296 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8347910 rs748428224 |
299 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8347911 rs770017785 |
300 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs140169734 CA8347912 |
301 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1178963285 CA397797587 |
301 | T>I | No |
ClinGen gnomAD |
|
|
RCV000338656 rs886041490 |
307 | I>missing | No |
ClinVar dbSNP |
|
|
CA397797911 rs1326483709 |
310 | K>R | No |
gnomAD ClinGen |
|
|
rs1370716196 CA397797996 |
313 | M>I | No |
gnomAD ClinGen |
|
|
rs375505960 CA397797989 |
313 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8347919 rs375505960 |
313 | M>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA287431138 rs969121499 |
316 | M>I | No |
TOPMed ClinGen |
|
|
rs763839239 CA8347920 |
316 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA397798153 rs1277064802 |
318 | L>R | No |
ClinGen gnomAD |
|
|
CA8347923 rs761535567 |
320 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA8347922 rs761535567 |
320 | T>N | No |
ExAC gnomAD ClinGen |
|
|
CA8347924 rs750396330 |
321 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397798283 rs1597754318 |
323 | V>D | No |
Ensembl ClinGen |
|
|
CA397798408 rs1460207501 |
327 | V>D | No |
ClinGen TOPMed |
|
|
rs752778673 CA8347927 |
327 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1247175818 CA397798424 |
328 | V>A | No |
gnomAD ClinGen |
|
|
CA397798430 rs1474808733 |
329 | V>I | No |
gnomAD ClinGen |
|
|
rs756292892 CA8347928 |
331 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756292892 CA8347929 |
331 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1383343548 CA397798554 |
333 | H>N | No |
ClinGen TOPMed |
|
|
rs771242993 CA8347931 |
334 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA397798659 rs779467380 |
335 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8347933 rs746417364 |
335 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA397798715 rs1167415636 |
338 | H>D | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 340 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760292772 CA397798884 |
343 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8347938 rs201913823 |
347 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs765524906 CA8347967 |
349 | I>L | No |
ExAC gnomAD ClinGen |
|
|
CA397800132 rs1382657530 |
349 | I>N | No |
ClinGen gnomAD |
|
|
rs1316148293 CA397800250 |
352 | H>D | No |
TOPMed ClinGen |
|
|
CA8347969 rs758883885 |
352 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141174329 CA8347971 |
355 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373665920 CA8347973 |
357 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397800408 rs1236567800 |
359 | R>S | No |
ClinGen gnomAD |
|
|
CA8347974 rs747724114 |
360 | L>P | No |
ClinGen ExAC |
|
|
rs1311398144 CA397800497 |
361 | K>N | No |
gnomAD ClinGen |
|
| TCGA novel | 361 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8347975 rs533577653 |
362 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA397800571 rs1367254546 |
365 | P>R | No |
ClinGen TOPMed |
|
|
CA397800576 rs1277653074 COSM3932732 |
366 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs749009183 CA8347977 |
368 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA8347978 rs770780908 |
368 | D>V | No |
ExAC gnomAD ClinGen |
|
|
CA8347980 rs759408729 |
370 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs1163974287 CA397800690 |
370 | M>L | No |
TOPMed ClinGen |
|
|
CA8347981 rs371033292 COSM1386318 |
371 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1173548805 CA397800755 |
372 | E>G | No |
ClinGen gnomAD |
|
|
rs776528675 CA8347982 |
372 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029247916 CA287432057 |
373 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8347984 rs765354765 |
373 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs867944973 CA287432072 |
375 | H>Y | No |
ClinGen Ensembl |
|
|
CA397800909 rs1389864432 |
377 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
| TCGA novel | 378 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397801011 rs1377352531 |
380 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1377352531 CA397801002 |
380 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs375440711 CA8347986 |
380 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597754975 CA397801105 |
383 | W>* | No |
ClinGen Ensembl |
|
|
CA397801074 rs1489572511 |
383 | W>R | No |
TOPMed ClinGen |
|
|
rs1233287505 CA397801139 |
385 | R>G | No |
ClinGen gnomAD |
|
|
CA397801147 rs1222134398 |
385 | R>Q | No |
ClinGen TOPMed |
|
|
rs1233287505 CA397801145 |
385 | R>W | No |
gnomAD ClinGen |
|
|
rs1288727425 CA397801224 |
388 | D>G | No |
TOPMed ClinGen |
|
|
rs1567679879 CA397801218 |
388 | D>Y | No |
ClinGen Ensembl |
|
|
rs1018014699 CA287432085 |
389 | E>K | No |
Ensembl ClinGen |
|
|
CA397801398 rs1200139179 |
392 | I>F | No |
gnomAD ClinGen |
|
|
rs1240584191 CA397801443 |
394 | K>N | No |
ClinGen TOPMed |
|
|
CA397801483 rs1597755005 |
395 | P>L | No |
Ensembl ClinGen |
|
|
rs755694034 CA8347992 |
397 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs1193567526 CA397801522 |
397 | S>T | No |
gnomAD ClinGen |
|
|
CA397801561 rs1567679888 |
399 | F>L | No |
ClinGen Ensembl |
|
|
rs962890403 CA287432133 |
400 | L>P | No |
ClinGen Ensembl |
|
|
CA8347993 rs138345058 |
400 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397801650 rs1435006733 |
402 | P>R | No |
ClinGen gnomAD |
|
|
rs1305635694 CA397801729 |
405 | N>D | No |
TOPMed ClinGen |
|
|
rs933481369 CA287432451 |
409 | P>L | No |
gnomAD ClinGen |
|
|
CA397802092 rs202144045 |
409 | P>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA397802128 rs1415713329 |
411 | L>V | No |
gnomAD ClinGen |
|
|
rs763150314 CA8348021 |
412 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1378355959 CA397802176 |
413 | A>D | No |
gnomAD ClinGen |
|
|
rs1158336202 CA397802172 |
413 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1158336202 CA397802169 |
413 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397802194 rs1290896514 |
414 | P>A | No |
ClinGen TOPMed |
|
|
rs926427496 CA287432462 |
415 | D>E | No |
ClinGen TOPMed |
|
|
rs992062922 CA287432473 |
416 | L>P | No |
TOPMed ClinGen |
|
|
CA397802320 rs1305359477 |
417 | R>L | No |
ClinGen TOPMed |
|
|
rs79145124 CA287432492 |
417 | R>W | No |
Ensembl ClinGen |
|
|
rs759978290 CA8348024 |
418 | R>* | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 420 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486730048 CA397802392 |
421 | D>G | No |
gnomAD ClinGen |
|
|
rs761173527 CA8348026 |
425 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA8348027 rs764537041 |
425 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761173527 CA397802475 |
425 | R>W | No |
ExAC gnomAD ClinGen |
|
|
rs1402917801 CA397802486 |
426 | A>D | No |
ClinGen TOPMed |
|
|
rs1242910645 CA397802480 |
426 | A>S | No |
ClinGen gnomAD |
|
|
CA8348028 rs753293826 |
427 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8348029 rs199763821 |
429 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8348031 rs750141309 |
434 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8348032 rs758114657 |
435 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA287432543 rs1039338082 |
436 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1597755409 CA397802632 |
436 | V>G | No |
ClinGen Ensembl |
|
|
rs779839761 CA8348033 |
438 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA287432552 rs772230301 |
439 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 439 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771205265 CA8348038 |
444 | A>D | No |
ExAC gnomAD ClinGen |
|
|
rs372649805 CA8348037 |
444 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs774704171 CA8348039 |
445 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1347283863 CA397802754 |
449 | E>* | No |
ClinGen gnomAD |
|
|
rs1347283863 CA397802752 |
449 | E>K | No |
gnomAD ClinGen |
|
|
CA8348042 rs746049604 |
450 | Q>E | No |
ClinGen ExAC |
|
|
CA8348043 rs772191641 |
451 | E>* | No |
ExAC gnomAD ClinGen |
|
|
CA8348044 rs775880940 |
452 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs142053338 CA397802805 |
453 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397802800 rs1313044445 |
453 | H>R | No |
ClinGen gnomAD |
|
|
CA397802823 rs777159945 |
455 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8348046 rs764560249 |
455 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777159945 CA8348047 |
455 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342664332 CA397802933 |
461 | Q>K | No |
ClinGen gnomAD |
|
|
CA397802938 rs1219444805 |
461 | Q>P | No |
gnomAD ClinGen |
|
|
rs1429690968 CA397802979 |
465 | M>V | No |
ClinGen TOPMed |
|
|
rs1597755972 CA397802993 |
466 | V>G | No |
Ensembl ClinGen |
|
|
rs1046733309 CA287433161 |
466 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1597755985 CA397803005 |
467 | V>G | No |
Ensembl ClinGen |
|
|
CA8348066 rs777107114 |
469 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772731018 CA8348069 |
473 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1186454483 CA397803110 |
473 | W>C | No |
ClinGen TOPMed |
|
|
rs1264670881 CA397803114 |
474 | T>A | No |
gnomAD ClinGen |
|
|
CA8348070 rs762420518 |
474 | T>S | No |
ExAC gnomAD ClinGen |
|
|
CA8348073 rs148533702 |
475 | F>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8348071 rs766025531 |
475 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA8348074 rs767365992 |
475 | F>L | No |
ExAC ClinGen |
|
|
rs752550057 CA8348075 |
481 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA397803263 rs1248048338 |
484 | L>P | No |
TOPMed ClinGen |
|
|
CA8348077 rs777872257 |
484 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760765706 CA287433251 |
488 | L>P | No |
Ensembl ClinGen |
|
|
rs142822694 CA287433253 |
490 | A>T | No |
ClinGen ESP |
|
|
CA8348078 rs750490746 |
491 | T>K | No |
ExAC gnomAD ClinGen |
|
|
rs780315164 CA8348080 |
494 | L>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 495 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA397803429 rs1446165336 |
496 | P>A | No |
TOPMed ClinGen |
|
| TCGA novel | 498 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597756053 CA397803466 |
499 | P>S | No |
Ensembl ClinGen |
|
|
CA397803496 rs1352951659 |
501 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA397803495 rs1352951659 |
501 | P>R | No |
TOPMed gnomAD ClinGen |
2 associated diseases with P11230
[MIM: 616313]: Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A)
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269|PubMed:27375219, ECO:0000269|PubMed:8651643, ECO:0000269|PubMed:8872460}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616314]: Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C)
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. {ECO:0000269|PubMed:10562302}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269|PubMed:27375219, ECO:0000269|PubMed:8651643, ECO:0000269|PubMed:8872460}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. {ECO:0000269|PubMed:10562302}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for P11230
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Chromogranin, conserved site | 35 - 56 | IPR018054-1 |
| conserved_site | Chromogranin, conserved site | 427 - 436 | IPR018054-2 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| acetylcholine-gated channel complex | A homo- or hetero-pentameric protein complex that forms a transmembrane channel through which ions may pass in response to acetylcholine binding. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| 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 specialization membrane | The component of the postsynaptic specialization 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. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylcholine binding | Binding to acetylcholine, an acetic acid ester of the organic base choline that functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions. |
| acetylcholine-gated cation-selective channel activity | Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. |
| channel activity | Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. |
| excitatory extracellular ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. |
| ligand-gated ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
| transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential | Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| acetylcholine receptor signaling pathway | The series of molecular signals generated as a consequence of an acetylcholine receptor binding to one of its physiological ligands. |
| behavioral response to nicotine | Any process that results in a change in the behavior of an organism as a result of a nicotine stimulus. |
| cation transport | The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 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. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| neuromuscular synaptic transmission | The process of synaptic transmission from a neuron to a muscle, across a synapse. |
| postsynaptic membrane organization | A process which results in the assembly, arrangement of constituent parts, or disassembly of a postsynaptic membrane, the specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| skeletal muscle contraction | A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. |
| synaptic transmission, cholinergic | The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine 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. |
37 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07263 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Bos taurus (Bovine) | PR |
| Q8SPU7 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Bos taurus (Bovine) | PR |
| P04758 | CHRNB1 | Acetylcholine receptor subunit beta | Bos taurus (Bovine) | PR |
| P09481 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Gallus gallus (Chicken) | PR |
| P26152 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Gallus gallus (Chicken) | PR |
| Q9I8C7 | CHRNA10 | Neuronal acetylcholine receptor subunit alpha-10 | Gallus gallus (Chicken) | PR |
| P43679 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Gallus gallus (Chicken) | PR |
| Q5IS76 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5IS75 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Pan troglodytes (Chimpanzee) | PR |
| P25162 | nAChRbeta2 | Acetylcholine receptor subunit beta-like 2 | Drosophila melanogaster (Fruit fly) | PR |
| P14867 | GABRA1 | Gamma-aminobutyric acid receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O14764 | GABRD | Gamma-aminobutyric acid receptor subunit delta | Homo sapiens (Human) | PR |
| Q9UN88 | GABRQ | Gamma-aminobutyric acid receptor subunit theta | Homo sapiens (Human) | PR |
| Q15825 | CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6 | Homo sapiens (Human) | PR |
| Q05901 | CHRNB3 | Neuronal acetylcholine receptor subunit beta-3 | Homo sapiens (Human) | PR |
| P30532 | CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5 | Homo sapiens (Human) | PR |
| P32297 | CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P48167 | GLRB | Glycine receptor subunit beta | Homo sapiens (Human) | PR |
| P23415 | GLRA1 | Glycine receptor subunit alpha-1 | Homo sapiens (Human) | PR |
| O75311 | GLRA3 | Glycine receptor subunit alpha-3 | Homo sapiens (Human) | PR |
| P23979 | Htr3a | 5-hydroxytryptamine receptor 3A | Mus musculus (Mouse) | PR |
| P04756 | Chrna1 | Acetylcholine receptor subunit alpha | Mus musculus (Mouse) | PR |
| Q9R0W9 | Chrna6 | Neuronal acetylcholine receptor subunit alpha-6 | Mus musculus (Mouse) | PR |
| Q8BMN3 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | Mus musculus (Mouse) | PR |
| Q2MKA5 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Mus musculus (Mouse) | PR |
| P09690 | Chrnb1 | Acetylcholine receptor subunit beta | Mus musculus (Mouse) | PR |
| P43144 | Chrna9 | Neuronal acetylcholine receptor subunit alpha-9 | Rattus norvegicus (Rat) | PR |
| P35563 | Htr3a | 5-hydroxytryptamine receptor 3A | Rattus norvegicus (Rat) | PR |
| P43143 | Chrna6 | Neuronal acetylcholine receptor subunit alpha-6 | Rattus norvegicus (Rat) | PR |
| P12391 | Chrnb3 | Neuronal acetylcholine receptor subunit beta-3 | Rattus norvegicus (Rat) | PR |
| P04757 | Chrna3 | Neuronal acetylcholine receptor subunit alpha-3 | Rattus norvegicus (Rat) | PR |
| P25108 | Chrna1 | Acetylcholine receptor subunit alpha | Rattus norvegicus (Rat) | PR |
| P20420 | Chrna5 | Neuronal acetylcholine receptor subunit alpha-5 | Rattus norvegicus (Rat) | PR |
| P25109 | Chrnb1 | Acetylcholine receptor subunit beta | Rattus norvegicus (Rat) | PR |
| P54244 | deg-3 | Acetylcholine receptor subunit alpha-type deg-3 | Caenorhabditis elegans | PR |
| P54246 | acr-5 | Acetylcholine receptor subunit alpha-type acr-5 | Caenorhabditis elegans | PR |
| Q93149 | acr-3 | Acetylcholine receptor subunit beta-type acr-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTPGALLMLL | GALGAPLAPG | VRGSEAEGRL | REKLFSGYDS | SVRPAREVGD | RVRVSVGLIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQLISLNEKD | EEMSTKVYLD | LEWTDYRLSW | DPAEHDGIDS | LRITAESVWL | PDVVLLNNND |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GNFDVALDIS | VVVSSDGSVR | WQPPGIYRSS | CSIQVTYFPF | DWQNCTMVFS | SYSYDSSEVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LQTGLGPDGQ | GHQEIHIHEG | TFIENGQWEI | IHKPSRLIQP | PGDPRGGREG | QRQEVIFYLI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IRRKPLFYLV | NVIAPCILIT | LLAIFVFYLP | PDAGEKMGLS | IFALLTLTVF | LLLLADKVPE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TSLSVPIIIK | YLMFTMVLVT | FSVILSVVVL | NLHHRSPHTH | QMPLWVRQIF | IHKLPLYLRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KRPKPERDLM | PEPPHCSSPG | SGWGRGTDEY | FIRKPPSDFL | FPKPNRFQPE | LSAPDLRRFI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DGPNRAVALL | PELREVVSSI | SYIARQLQEQ | EDHDALKEDW | QFVAMVVDRL | FLWTFIIFTS |
| 490 | 500 | ||||
| VGTLVIFLDA | TYHLPPPDPF | P |