No paralogue variants have been mapped to residue 2091 for CACNA1C.
CACNA1C | QELADACDMTIEEMESAADNILSGGAPQSP>N<GALLPFVNCRDAG---QDRAGGEEDA---- | 2114 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | LDSEASVHALPEDTLTFEEAVATNSGRSSR>T<SYVSSLTSQSHPL---RRVPNGYHCTLG-L | 2321 |
CACNA1D | HEIADACDLTIDEMESAASTLLNGNVRPRA>N<GDVGPLSHRQDYE---LQDFGPGYSD---- | 2159 |
CACNA1E | EDSHAS-DCGEEETLTFEAAVATSLGRSNT>I<GSAPPLRHSW-------QMPNGHYRRRR-R | 2288 |
CACNA1F | QEIADACRLTLDEMDNAASDLLAQGTSS-->-<----------------------LYSD---- | 1954 |
CACNA1G | RRAPSSDSKDPLASGPPDSMAASPSPKKDV>L<SLSGLSSDPADLD----------------- | 2376 |
CACNA1H | VPSFAFEPLDLGVPSGDPFLDGSHSVTPES>R<ASSSGAIVPLEPPESEPPMPVGDPPEKRRG | 2323 |
CACNA1I | RKFSSTSSLAAPGRPHAAALAHGLARSPSW>A<ADRSKDPPGRAPLPMGLGPLAPP------- | 2204 |
CACNA1S | QALADACQMEPEEVEIMATELLKGREAPEG>M<ASSLGCLNL--------------------- | 1851 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N2091S | c.6272A>G | Conflict | rs201090446 | SIFT: deleterious Polyphen: benign | |
Reports | Other Cardiac Phenotype | Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young. Congenit Heart Dis. 2016 27218670 |