No paralogue variants have been mapped to residue 2102 for CACNA1C.
CACNA1C | EEMESAADNILSGGAPQSPNGALLPFVNCR>D<AG---QDRAGGEEDA----------GCV-- | 2117 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | EDTLTFEEAVATNSGRSSRTSYVSSLTSQS>H<PL---RRVPNGYHCTLG-LS---------- | 2322 |
CACNA1D | DEMESAASTLLNGNVRPRANGDVGPLSHRQ>D<YE---LQDFGPGYSD----------E-E-- | 2161 |
CACNA1E | EETLTFEAAVATSLGRSNTIGSAPPLRHSW>-<------QMPNGHYRRRR-RG-----GPG-- | 2292 |
CACNA1F | DEMDNAASDLLAQGTSS------------->-<-----------LYSD----------E-E-- | 1956 |
CACNA1G | LASGPPDSMAASPSPKKDVLSLSGLSSDPA>D<LD---------------------------- | 2376 |
CACNA1H | GVPSGDPFLDGSHSVTPESRASSSGAIVPL>E<PPESEPPMPVGDPPEKRRGLYLTVPQ-CPL | 2333 |
CACNA1I | PGRPHAAALAHGLARSPSWAADRSKDPPGR>A<PLPMGLGPLAPP------------------ | 2204 |
CACNA1S | EEVEIMATELLKGREAPEGMASSLGCLNL->-<---------------------------G-- | 1852 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2102E | c.6306C>A | Putative Benign | SIFT: Polyphen: |