No paralogue variants have been mapped to residue 1227 for CACNA1C.
| CACNA1C | LRRYIPK--NQHQYKVWYVVNSTYFEYLMF>V<LILLNTICLAMQHYGQSCLFKIAMNILNML | 1257 |
| CACNA1A | LTRHMPQNKQSFQYRMWQFVVSPPFEYTIM>A<MIALNTIVLMMKFYGASVAYENALRVFNIV | 1604 |
| CACNA1B | LTRYMPQNRQSFQYKTWTFVVSPPFEYFIM>A<MIALNTVVLMMKFYDAPYEYELMLKCLNIV | 1510 |
| CACNA1D | LRRYIPK--NPYQYKFWYVVNSSPFEYMMF>V<LIMLNTLCLAMQHYEQSKMFNDAMDILNMV | 1263 |
| CACNA1E | LTRYMPQNRHTFQYRVWHFVVSPSFEYTIM>A<MIALNTVVLMMKYYSAPCTYELALKYLNIA | 1516 |
| CACNA1F | LRRYIPK--NPHQYRVWATVNSAAFEYLMF>L<LILLNTVALAMQHYEQTAPFNYAMDILNMV | 1228 |
| CACNA1G | QCKPYYSDYSRFRLLVHHLCTSHYLDLFIT>G<VIGLNVVTMAMEHYQQPQILDEALKICNYI | 1649 |
| CACNA1H | -RRPYYADYSPTRRSIHSLCTSHYLDLFIT>F<IICVNVITMSMEHYNQPKSLDEALKYCNYV | 1655 |
| CACNA1I | -RLPYYATYCHTRLLIHSMCTSHYLDIFIT>F<IICLNVVTMSLEHYNQPTSLETALKYCNYM | 1525 |
| CACNA1S | LRCYIPK--NPYQYQVWYIVTSSYFEYLMF>A<LIMLNTICLGMQHYNQSEQMNHISDILNVA | 1156 |
| SCN10A | -QKPIPRPLNKFQGFVFDIVTRQAFDITIM>V<LICLNMITMMVETDDQSEEKTKILGKINQF | 1514 |
| SCN11A | -QKPIPRPLNKCQGLVFDIVTSQIFDIIII>S<LIILNMISMMAESYNQPKAMKSILDHLNWV | 1404 |
| SCN1A | -QKPIPRPGNKFQGMVFDFVTRQVFDISIM>I<LICLNMVTMMVETDDQSEYVTTILSRINLV | 1579 |
| SCN2A | -QKPIPRPANKFQGMVFDFVTKQVFDISIM>I<LICLNMVTMMVETDDQSQEMTNILYWINLV | 1569 |
| SCN3A | -QKPIPRPANKFQGMVFDFVTRQVFDISIM>I<LICLNMVTMMVETDDQGKYMTLVLSRINLV | 1564 |
| SCN4A | -QKPIPRPQNKIQGMVYDLVTKQAFDITIM>I<LICLNMVTMMVETDNQSQLKVDILYNINMI | 1391 |
| SCN5A | -QKPIPRPLNKYQGFIFDIVTKQAFDVTIM>F<LICLNMVTMMVETDDQSPEKINILAKINLL | 1566 |
| SCN7A | -QRPVPRPLNKLQGFIFDVVTSQAFNVIVM>V<LICFQAIAMMIDTDVQSLQMSIALYWINSI | 1289 |
| SCN8A | -QKPIPRPLNKIQGIVFDFVTQQAFDIVIM>M<LICLNMVTMMVETDTQSKQMENILYWINLV | 1560 |
| SCN9A | -QKPIPRPGNKIQGCIFDLVTNQAFDISIM>V<LICLNMVTMMVEKEGQSQHMTEVLYWINVV | 1542 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V1227I | c.3679G>A | Putative Benign | rs373124557 | SIFT: tolerated Polyphen: benign | |
| p.V1227L | c.3679G>C | Putative Benign | SIFT: Polyphen: |