No paralogue variants have been mapped to residue 1742 for CACNA1C.
CACNA1C | T---T-------QRPLHINKAGSS-QGDTE>S<PSHEKLVDSTFTPSSY-------SSTGSNA | 1765 |
CACNA1A | A----------------------------->-<------------------------------ | 2099 |
CACNA1B | A----------------------------->-<------------------------------ | 2008 |
CACNA1D | T---T-------HRPLHVQRPSIPPASDTE>K<PLFPPAGNSVCHNHHNHNSIGKQVPTSTNA | 1776 |
CACNA1E | V----------------------------->-<------------------------------ | 2006 |
CACNA1F | VGDRL-------PDSLSFG---P------->-<--SDDDRG---------------TPTSSQP | 1708 |
CACNA1G | -----------ADT-----------SYILQ>L<PKDAPHLLQPHS-APT--------WGTIPK | 2116 |
CACNA1H | P---AAP----GGE-----------EAEAS>D<PADEEVSHITSS-ACP--------WQPTAE | 2116 |
CACNA1I | S---WASLRSPRVN-----------CTLLR>Q<ATGSDTSLDASP-SSS--------AGSL-Q | 2029 |
CACNA1S | A---N-------QRPLQFAEIE---MEEME>S<PVFLE---D-FPQDPR-------TNPLARA | 1659 |
SCN10A | ------------------------------>-<----ETASATSF-P----------PSYESV | 1924 |
SCN11A | ------------------------------>-<----L--------------------CNGDL | 1778 |
SCN1A | ------------------------------>-<----DLTMSTAACP----------PSYDRV | 1989 |
SCN2A | ------------------------------>-<----DMTPSTTS-P----------PSYDSV | 1978 |
SCN3A | ------------------------------>-<----DGSSSTTS-P----------PSYDSV | 1973 |
SCN4A | ------------------------------>-<----EKGEAGDA-G----------PTMGLM | 1808 |
SCN5A | ------------------------------>-<----SSISSTSF-P----------PSYDSV | 1980 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<----ESTPSTAS-L----------PSYDSV | 1950 |
SCN9A | ------------------------------>-<----DATSSTTS-P----------PSYDSV | 1950 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1742L | c.5225C>T | Putative Benign | rs375571032 | SIFT: tolerated Polyphen: benign |