No paralogue variants have been mapped to residue 2071 for CACNA1C.
CACNA1C | -----------PKFIEVTT-QELADACDMT>I<EEMESAADNILSGGAPQSPNGALLPFVNCR | 2101 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | -----------SDPYLGQR-LDSEASVHAL>P<EDTLTFEEAVATNSGRSSRTSYVSSLTSQS | 2305 |
CACNA1D | -----------PKFVSATK-HEIADACDLT>I<DEMESAASTLLNGNVRPRANGDVGPLSHRQ | 2146 |
CACNA1E | -----------SEPYLALH-EDSHAS-DCG>E<EETLTFEAAVATSLGRSNTIGSAPPLRHSW | 2276 |
CACNA1F | -----------PRFVALAK-QEIADACRLT>L<DEMDNAASDLLAQGTSS------------- | 1950 |
CACNA1G | -----------PPSPGICLRRRAPSSDSKD>P<LASGPPDSMAASPSPKKDVLSLSGLSSDPA | 2373 |
CACNA1H | DPAAKGERWGQASCRAEHLTVPSFAFEPLD>L<GVPSGDPFLDGSHSVTPESRASSSGAIVPL | 2303 |
CACNA1I | -----------PPAPGLTPARKFSSTSSLA>A<PGRPHAAALAHGLARSPSWAADRSKDPPGR | 2191 |
CACNA1S | -----------ANFIMATG-QALADACQME>P<EEVEIMATELLKGREAPEGMASSLGCLNL- | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2071T | c.6212T>C | Putative Benign | SIFT: Polyphen: |