No paralogue variants have been mapped to residue 1757 for CACNA1C.
CACNA1C | LHINKAGSS-QGDTESPSHEKLVDSTFTPS>S<Y-------SSTGSNANI--NNANNTALGRL | 1778 |
CACNA1A | ------------------------------>-<------------------------ENQRRR | 2105 |
CACNA1B | ------------------------------>-<------------------------ETQ--- | 2011 |
CACNA1D | LHVQRPSIPPASDTEKPLFPPAGNSVCHNH>H<NHNSIGKQVPTSTNANL--NNANMSKAAHG | 1789 |
CACNA1E | ------------------------------>-<------------------------DPQ--- | 2009 |
CACNA1F | LSFG---P----------SDDDRG------>-<--------TPTSSQPSV--PQAGSNTHRRG | 1721 |
CACNA1G | ----------SYILQLPKDAPHLLQPHS-A>P<T--------WGTIPKLPPPG---RSPL--- | 2125 |
CACNA1H | ----------EAEASDPADEEVSHITSS-A>C<P--------WQPTAEPH------------- | 2118 |
CACNA1I | ----------CTLLRQATGSDTSLDASP-S>S<S--------AGSL-QTTLED---SLT---- | 2037 |
CACNA1S | LQFAEIE---MEEMESPVFLE---D-FPQD>P<R-------TNPLARANT--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.S1757I | c.5270G>T | Putative Benign | SIFT: Polyphen: |