No paralogue variants have been mapped to residue 2076 for CACNA1C.
CACNA1C | ------PKFIEVTT-QELADACDMTIEEME>S<AADNILSGGAPQSPNGALLPFVNCRDAG-- | 2104 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------SDPYLGQR-LDSEASVHALPEDTL>T<FEEAVATNSGRSSRTSYVSSLTSQSHPL-- | 2308 |
CACNA1D | ------PKFVSATK-HEIADACDLTIDEME>S<AASTLLNGNVRPRANGDVGPLSHRQDYE-- | 2149 |
CACNA1E | ------SEPYLALH-EDSHAS-DCGEEETL>T<FEAAVATSLGRSNTIGSAPPLRHSW----- | 2276 |
CACNA1F | ------PRFVALAK-QEIADACRLTLDEMD>N<AASDLLAQGTSS------------------ | 1950 |
CACNA1G | ------PPSPGICLRRRAPSSDSKDPLASG>P<PDSMAASPSPKKDVLSLSGLSSDPADLD-- | 2376 |
CACNA1H | GERWGQASCRAEHLTVPSFAFEPLDLGVPS>G<DPFLDGSHSVTPESRASSSGAIVPLEPPES | 2308 |
CACNA1I | ------PPAPGLTPARKFSSTSSLAAPGRP>H<AAALAHGLARSPSWAADRSKDPPGRAPLPM | 2196 |
CACNA1S | ------ANFIMATG-QALADACQMEPEEVE>I<MATELLKGREAPEGMASSLGCLNL------ | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2076R | c.6228C>A | Putative Benign | SIFT: Polyphen: |