No paralogue variants have been mapped to residue 2092 for CACNA1C.
CACNA1C | ELADACDMTIEEMESAADNILSGGAPQSPN>G<ALLPFVNCRDAG---QDRAGGEEDA----- | 2114 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | DSEASVHALPEDTLTFEEAVATNSGRSSRT>S<YVSSLTSQSHPL---RRVPNGYHCTLG-LS | 2322 |
CACNA1D | EIADACDLTIDEMESAASTLLNGNVRPRAN>G<DVGPLSHRQDYE---LQDFGPGYSD----- | 2159 |
CACNA1E | DSHAS-DCGEEETLTFEAAVATSLGRSNTI>G<SAPPLRHSW-------QMPNGHYRRRR-RG | 2289 |
CACNA1F | EIADACRLTLDEMDNAASDLLAQGTSS--->-<---------------------LYSD----- | 1954 |
CACNA1G | RAPSSDSKDPLASGPPDSMAASPSPKKDVL>S<LSGLSSDPADLD------------------ | 2376 |
CACNA1H | PSFAFEPLDLGVPSGDPFLDGSHSVTPESR>A<SSSGAIVPLEPPESEPPMPVGDPPEKRRGL | 2324 |
CACNA1I | KFSSTSSLAAPGRPHAAALAHGLARSPSWA>A<DRSKDPPGRAPLPMGLGPLAPP-------- | 2204 |
CACNA1S | ALADACQMEPEEVEIMATELLKGREAPEGM>A<SSLGCLNL---------------------- | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2092D | c.6275G>A | Putative Benign | SIFT: Polyphen: |