No paralogue variants have been mapped to residue 2077 for CACNA1C.
CACNA1C | -----PKFIEVTT-QELADACDMTIEEMES>A<ADNILSGGAPQSPNGALLPFVNCRDAG--- | 2104 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | -----SDPYLGQR-LDSEASVHALPEDTLT>F<EEAVATNSGRSSRTSYVSSLTSQSHPL--- | 2308 |
CACNA1D | -----PKFVSATK-HEIADACDLTIDEMES>A<ASTLLNGNVRPRANGDVGPLSHRQDYE--- | 2149 |
CACNA1E | -----SEPYLALH-EDSHAS-DCGEEETLT>F<EAAVATSLGRSNTIGSAPPLRHSW------ | 2276 |
CACNA1F | -----PRFVALAK-QEIADACRLTLDEMDN>A<ASDLLAQGTSS------------------- | 1950 |
CACNA1G | -----PPSPGICLRRRAPSSDSKDPLASGP>P<DSMAASPSPKKDVLSLSGLSSDPADLD--- | 2376 |
CACNA1H | ERWGQASCRAEHLTVPSFAFEPLDLGVPSG>D<PFLDGSHSVTPESRASSSGAIVPLEPPESE | 2309 |
CACNA1I | -----PPAPGLTPARKFSSTSSLAAPGRPH>A<AALAHGLARSPSWAADRSKDPPGRAPLPMG | 2197 |
CACNA1S | -----ANFIMATG-QALADACQMEPEEVEI>M<ATELLKGREAPEGMASSLGCLNL------- | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2077T | c.6229G>A | Putative Benign | SIFT: Polyphen: |