No paralogue variants have been mapped to residue 2051 for CACNA1C.
CACNA1C | SASSLVEA-----VL--ISEG----LGQFA>Q<D----------------------------- | 2052 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | HNA-----LLQRDPL--SQPL----APGSR>I<G----------------------------- | 2256 |
CACNA1D | SADSLVEA-----VL--ISEG----LGRYA>R<D----------------------------- | 2097 |
CACNA1E | NNACLTESSNSPHPQ--QSQH----ASPQR>Y<I----------------------------- | 2228 |
CACNA1F | SADSLVEA-----VL--ISEG----LGLFA>R<D----------------------------- | 1914 |
CACNA1G | KKKLSPPS-----IT--IDPP----ESQGP>R<T----------------------------- | 2323 |
CACNA1H | KKKMSPPC-----I--SVEPPAEDEGSARP>S<AAEGGSTTLRRRTPSCEATPHRDSLEPTEG | 2237 |
CACNA1I | SETLSSLS-----LTSLFCPP----PP--->-<------------------------------ | 2141 |
CACNA1S | ATALLIQK-----AL--VRGG----LGTLA>A<D----------------------------- | 1803 |
SCN10A | ---A-------------------------->-<------------------------------ | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ---A-------------------------->-<------------------------------ | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2051K | c.6151C>A | Putative Benign | SIFT: Polyphen: |