No paralogue variants have been mapped to residue 2085 for CACNA1C.
CACNA1C | IEVTT-QELADACDMTIEEMESAADNILSG>G<APQSPNGALLPFVNCRDAG---QDRAGGEE | 2112 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | YLGQR-LDSEASVHALPEDTLTFEEAVATN>S<GRSSRTSYVSSLTSQSHPL---RRVPNGYH | 2316 |
CACNA1D | VSATK-HEIADACDLTIDEMESAASTLLNG>N<VRPRANGDVGPLSHRQDYE---LQDFGPGY | 2157 |
CACNA1E | YLALH-EDSHAS-DCGEEETLTFEAAVATS>L<GRSNTIGSAPPLRHSW-------QMPNGHY | 2283 |
CACNA1F | VALAK-QEIADACRLTLDEMDNAASDLLAQ>G<TSS-------------------------LY | 1952 |
CACNA1G | PGICLRRRAPSSDSKDPLASGPPDSMAASP>S<PKKDVLSLSGLSSDPADLD----------- | 2376 |
CACNA1H | RAEHLTVPSFAFEPLDLGVPSGDPFLDGSH>S<VTPESRASSSGAIVPLEPPESEPPMPVGDP | 2317 |
CACNA1I | PGLTPARKFSSTSSLAAPGRPHAAALAHGL>A<RSPSWAADRSKDPPGRAPLPMGLGPLAPP- | 2204 |
CACNA1S | IMATG-QALADACQMEPEEVEIMATELLKG>R<EAPEGMASSLGCLNL--------------- | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2085D | c.6254G>A | Putative Benign | SIFT: Polyphen: |