No paralogue variants have been mapped to residue 2050 for CACNA1C.
CACNA1C | GSASSLVEA-----VL--ISEG----LGQF>A<QD---------------------------- | 2052 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | EHNA-----LLQRDPL--SQPL----APGS>R<IG---------------------------- | 2256 |
CACNA1D | RSADSLVEA-----VL--ISEG----LGRY>A<RD---------------------------- | 2097 |
CACNA1E | SNNACLTESSNSPHPQ--QSQH----ASPQ>R<YI---------------------------- | 2228 |
CACNA1F | GSADSLVEA-----VL--ISEG----LGLF>A<RD---------------------------- | 1914 |
CACNA1G | PKKKLSPPS-----IT--IDPP----ESQG>P<RT---------------------------- | 2323 |
CACNA1H | RKKKMSPPC-----I--SVEPPAEDEGSAR>P<SAAEGGSTTLRRRTPSCEATPHRDSLEPTE | 2236 |
CACNA1I | HSETLSSLS-----LTSLFCPP----PP-->-<------------------------------ | 2141 |
CACNA1S | PATALLIQK-----AL--VRGG----LGTL>A<AD---------------------------- | 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.A2050V | c.6149C>T | Putative Benign | SIFT: Polyphen: |