No paralogue variants have been mapped to residue 1777 for CACNA1C.
CACNA1C | SSY-------SSTGSNANI--NNANNTALG>R<LPRPAG----YPSTVSTVEGHGPPLSPAIR | 1803 |
CACNA1A | --------------------------ENQR>R<RGRPR----------GNNLSTISDTSPMKR | 2124 |
CACNA1B | --------------------------ETQ->-<---P-----------------VTDASPMKR | 2021 |
CACNA1D | HHNHNSIGKQVPTSTNANL--NNANMSKAA>H<GKRPSIGNLEHVSENGHHSSHKHDREPQRR | 1818 |
CACNA1E | --------------------------DPQ->-<--------------------VVTDPSSMRR | 2019 |
CACNA1F | ----------TPTSSQPSV--PQAGSNTHR>R<GSG--------------------------- | 1723 |
CACNA1G | APT--------WGTIPKLPPPG---RSPL->-<----------------AQRPLRRQAAIRTD | 2139 |
CACNA1H | ACP--------WQPTAEPH----------->-<------------------------------ | 2118 |
CACNA1I | SSS--------AGSL-QTTLED---SLT-->-<-------------------------LSDSP | 2042 |
CACNA1S | DPR-------TNPLARANT--NNAN----->-<------------------------------ | 1665 |
SCN10A | P----------PSYESVT------------>-<------------------------------ | 1925 |
SCN11A | ------------CNGDLS------------>-<------------------------------ | 1779 |
SCN1A | P----------PSYDRVT------------>-<------------------------------ | 1990 |
SCN2A | P----------PSYDSVT------------>-<------------------------------ | 1979 |
SCN3A | P----------PSYDSVT------------>-<------------------------------ | 1974 |
SCN4A | G----------PTMGLMP------------>-<------------------------------ | 1809 |
SCN5A | P----------PSYDSVT------------>-<------------------------------ | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | L----------PSYDSVT------------>-<------------------------------ | 1951 |
SCN9A | P----------PSYDSVT------------>-<------------------------------ | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1777H | c.5330G>A | Putative Benign | rs189719120 | SIFT: tolerated Polyphen: probably damaging | |
p.R1777C | c.5329C>T | Putative Benign | SIFT: Polyphen: |