No paralogue variants have been mapped to residue 1745 for CACNA1C.
CACNA1C | -T-------QRPLHINKAGSS-QGDTESPS>H<EKLVDSTFTPSSY-------SSTGSNANI- | 1767 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1D | -T-------HRPLHVQRPSIPPASDTEKPL>F<PPAGNSVCHNHHNHNSIGKQVPTSTNANL- | 1778 |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | RL-------PDSLSFG---P---------->S<DDDRG---------------TPTSSQPSV- | 1710 |
CACNA1G | --------ADT-----------SYILQLPK>D<APHLLQPHS-APT--------WGTIPKLPP | 2119 |
CACNA1H | -AAP----GGE-----------EAEASDPA>D<EEVSHITSS-ACP--------WQPTAEPH- | 2118 |
CACNA1I | -WASLRSPRVN-----------CTLLRQAT>G<SDTSLDASP-SSS--------AGSL-QTTL | 2032 |
CACNA1S | -N-------QRPLQFAEIE---MEEMESPV>F<LE---D-FPQDPR-------TNPLARANT- | 1661 |
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.H1745R | c.5234A>G | Putative Benign | SIFT: Polyphen: |