No paralogue variants have been mapped to residue 1250 for CACNA1C.
CACNA1C | YFEYLMFVLILLNTICLAMQHYGQSCLFKI>A<MNILNMLFTGLFTVEMILKLIAFKPKHYFC | 1280 |
CACNA1A | PFEYTIMAMIALNTIVLMMKFYGASVAYEN>A<LRVFNIVFTSLFSLECVLKVMAFGILNYFR | 1627 |
CACNA1B | PFEYFIMAMIALNTVVLMMKFYDAPYEYEL>M<LKCLNIVFTSMFSMECVLKIIAFGVLNYFR | 1533 |
CACNA1D | PFEYMMFVLIMLNTLCLAMQHYEQSKMFND>A<MDILNMVFTGVFTVEMVLKVIAFKPKGYFS | 1286 |
CACNA1E | SFEYTIMAMIALNTVVLMMKYYSAPCTYEL>A<LKYLNIAFTMVFSLECVLKVIAFGFLNYFR | 1539 |
CACNA1F | AFEYLMFLLILLNTVALAMQHYEQTAPFNY>A<MDILNMVFTGLFTIEMVLKIIAFKPKHYFT | 1251 |
CACNA1G | YLDLFITGVIGLNVVTMAMEHYQQPQILDE>A<LKICNYIFTVIFVLESVFKLVAFGFRRFFQ | 1672 |
CACNA1H | YLDLFITFIICVNVITMSMEHYNQPKSLDE>A<LKYCNYVFTIVFVFEAALKLVAFGFRRFFK | 1678 |
CACNA1I | YLDIFITFIICLNVVTMSLEHYNQPTSLET>A<LKYCNYMFTTVFVLEAVLKLVAFGLRRFFK | 1548 |
CACNA1S | YFEYLMFALIMLNTICLGMQHYNQSEQMNH>I<SDILNVAFTIIFTLEMILKLMAFKARGYFG | 1179 |
SCN10A | AFDITIMVLICLNMITMMVETDDQSEEKTK>I<LGKINQFFVAVFTGECVMKMFALR-QYYFT | 1536 |
SCN11A | IFDIIIISLIILNMISMMAESYNQPKAMKS>I<LDHLNWVFVVIFTLECLIKIFALR-QYYFT | 1426 |
SCN1A | VFDISIMILICLNMVTMMVETDDQSEYVTT>I<LSRINLVFIVLFTGECVLKLISLR-HYYFT | 1601 |
SCN2A | VFDISIMILICLNMVTMMVETDDQSQEMTN>I<LYWINLVFIVLFTGECVLKLISLR-YYYFT | 1591 |
SCN3A | VFDISIMILICLNMVTMMVETDDQGKYMTL>V<LSRINLVFIVLFTGEFVLKLVSLR-HYYFT | 1586 |
SCN4A | AFDITIMILICLNMVTMMVETDNQSQLKVD>I<LYNINMIFIIIFTGECVLKMLALR-QYYFT | 1413 |
SCN5A | AFDVTIMFLICLNMVTMMVETDDQSPEKIN>I<LAKINLLFVAIFTGECIVKLAALR-HYYFT | 1588 |
SCN7A | AFNVIVMVLICFQAIAMMIDTDVQSLQMSI>A<LYWINSIFVMLYTMECILKLIAFR-CFYFT | 1311 |
SCN8A | AFDIVIMMLICLNMVTMMVETDTQSKQMEN>I<LYWINLVFVIFFTCECVLKMFALR-HYYFT | 1582 |
SCN9A | AFDISIMVLICLNMVTMMVEKEGQSQHMTE>V<LYWINVVFIILFTGECVLKLISLR-HYYFT | 1564 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1250T | c.3748G>A | Putative Benign | rs373930708 | SIFT: tolerated Polyphen: benign | |
p.A1250S | c.3748G>T | Putative Benign | SIFT: Polyphen: |