No paralogue variants have been mapped to residue 2107 for CACNA1C.
CACNA1C | NILSGGAPQSPNGALLPFVNCRDAG---QD>R<AGGEEDA----------GCV-----RARGR | 2122 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | AVATNSGRSSRTSYVSSLTSQSHPL---RR>V<PNGYHCTLG-LS--------------SGGR | 2326 |
CACNA1D | TLLNGNVRPRANGDVGPLSHRQDYE---LQ>D<FGPGYSD----------E-E-----PDPGR | 2166 |
CACNA1E | AVATSLGRSNTIGSAPPLRHSW-------Q>M<PNGHYRRRR-RG-----GPG-----PGMMC | 2297 |
CACNA1F | DLLAQGTSS--------------------->-<---LYSD----------E-E-----SILSR | 1961 |
CACNA1G | MAASPSPKKDVLSLSGLSSDPADLD----->-<------------------------------ | 2376 |
CACNA1H | LDGSHSVTPESRASSSGAIVPLEPPESEPP>M<PVGDPPEKRRGLYLTVPQ-CPLEKPGSPSA | 2341 |
CACNA1I | LAHGLARSPSWAADRSKDPPGRAPLPMGLG>P<LAPP--------------------PQPLPG | 2210 |
CACNA1S | ELLKGREAPEGMASSLGCLNL--------->-<-------------------G-----SSLGS | 1857 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2107P | c.6320G>C | Putative Benign | SIFT: tolerated Polyphen: benign |