No paralogue variants have been mapped to residue 1759 for CACNA1C.
| CACNA1C | -QGDTESPSHEKLVDSTFTPSSY------->S<STGSNANI--NNANNTALGRLPRPAG---- | 1783 |
| CACNA1A | ------------------------------>-<---------------ENQRRRGRPR----- | 2109 |
| CACNA1B | ------------------------------>-<---------------ETQ-----P------ | 2012 |
| CACNA1D | PASDTEKPLFPPAGNSVCHNHHNHNSIGKQ>V<PTSTNANL--NNANMSKAAHGKRPSIGNLE | 1798 |
| CACNA1E | ------------------------------>-<---------------DPQ------------ | 2009 |
| CACNA1F | ---------SDDDRG--------------->T<PTSSQPSV--PQAGSNTHRRGSG------- | 1723 |
| CACNA1G | -SYILQLPKDAPHLLQPHS-APT------->-<WGTIPKLPPPG---RSPL------------ | 2125 |
| CACNA1H | -EAEASDPADEEVSHITSS-ACP------->-<WQPTAEPH---------------------- | 2118 |
| CACNA1I | -CTLLRQATGSDTSLDASP-SSS------->-<AGSL-QTTLED---SLT------------- | 2037 |
| CACNA1S | -MEEMESPVFLE---D-FPQDPR------->T<NPLARANT--NNAN---------------- | 1665 |
| SCN10A | -----------ETASATSF-P--------->-<PSYESVT----------------------- | 1925 |
| SCN11A | -----------L------------------>-<-CNGDLS----------------------- | 1779 |
| SCN1A | -----------DLTMSTAACP--------->-<PSYDRVT----------------------- | 1990 |
| SCN2A | -----------DMTPSTTS-P--------->-<PSYDSVT----------------------- | 1979 |
| SCN3A | -----------DGSSSTTS-P--------->-<PSYDSVT----------------------- | 1974 |
| SCN4A | -----------EKGEAGDA-G--------->-<PTMGLMP----------------------- | 1809 |
| SCN5A | -----------SSISSTSF-P--------->-<PSYDSVT----------------------- | 1981 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | -----------ESTPSTAS-L--------->-<PSYDSVT----------------------- | 1951 |
| SCN9A | -----------DATSSTTS-P--------->-<PSYDSVT----------------------- | 1951 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1759L | c.5276C>T | Putative Benign | SIFT: Polyphen: |