No paralogue variants have been mapped to residue 1271 for CACNA1C.
CACNA1C | YGQSCLFKIAMNILNMLFTGLFTVEMILKL>I<AFKPKHYFCDAWNTFDALIVVGSIVDIAIT | 1301 |
CACNA1A | YGASVAYENALRVFNIVFTSLFSLECVLKV>M<AFGILNYFRDAWNIFDFVTVLGSITDILVT | 1648 |
CACNA1B | YDAPYEYELMLKCLNIVFTSMFSMECVLKI>I<AFGVLNYFRDAWNVFDFVTVLGSITDILVT | 1554 |
CACNA1D | YEQSKMFNDAMDILNMVFTGVFTVEMVLKV>I<AFKPKGYFSDAWNTFDSLIVIGSIIDVALS | 1307 |
CACNA1E | YSAPCTYELALKYLNIAFTMVFSLECVLKV>I<AFGFLNYFRDTWNIFDFITVIGSITEIILT | 1560 |
CACNA1F | YEQTAPFNYAMDILNMVFTGLFTIEMVLKI>I<AFKPKHYFTDAWNTFDALIVVGSIVDIAVT | 1272 |
CACNA1G | YQQPQILDEALKICNYIFTVIFVLESVFKL>V<AFGFRRFFQDRWNQLDLAIVLLSIMGITLE | 1693 |
CACNA1H | YNQPKSLDEALKYCNYVFTIVFVFEAALKL>V<AFGFRRFFKDRWNQLDLAIVLLSLMGITLE | 1699 |
CACNA1I | YNQPTSLETALKYCNYMFTTVFVLEAVLKL>V<AFGLRRFFKDRWNQLDLAIVLLSVMGITLE | 1569 |
CACNA1S | YNQSEQMNHISDILNVAFTIIFTLEMILKL>M<AFKARGYFGDPWNVFDFLIVIGSIIDVILS | 1200 |
SCN10A | DDQSEEKTKILGKINQFFVAVFTGECVMKM>F<ALR-QYYFTNGWNVFDFIVVVLSIASLIFS | 1557 |
SCN11A | YNQPKAMKSILDHLNWVFVVIFTLECLIKI>F<ALR-QYYFTNGWNLFDCVVVLLSIVSTMIS | 1447 |
SCN1A | DDQSEYVTTILSRINLVFIVLFTGECVLKL>I<SLR-HYYFTIGWNIFDFVVVILSIVGMFLA | 1622 |
SCN2A | DDQSQEMTNILYWINLVFIVLFTGECVLKL>I<SLR-YYYFTIGWNIFDFVVVILSIVGMFLA | 1612 |
SCN3A | DDQGKYMTLVLSRINLVFIVLFTGEFVLKL>V<SLR-HYYFTIGWNIFDFVVVILSIVGMFLA | 1607 |
SCN4A | DNQSQLKVDILYNINMIFIIIFTGECVLKM>L<ALR-QYYFTVGWNIFDFVVVILSIVGLALS | 1434 |
SCN5A | DDQSPEKINILAKINLLFVAIFTGECIVKL>A<ALR-HYYFTNSWNIFDFVVVILSIVGTVLS | 1609 |
SCN7A | DVQSLQMSIALYWINSIFVMLYTMECILKL>I<AFR-CFYFTIAWNIFDFMVVIFSITGLCLP | 1332 |
SCN8A | DTQSKQMENILYWINLVFVIFFTCECVLKM>F<ALR-HYYFTIGWNIFDFVVVILSIVGMFLA | 1603 |
SCN9A | EGQSQHMTEVLYWINVVFIILFTGECVLKL>I<SLR-HYYFTVGWNIFDFVVVIISIVGMFLA | 1585 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1271M | c.3813T>G | Putative Benign | SIFT: Polyphen: |