No paralogue variants have been mapped to residue 2115 for CACNA1C.
CACNA1C | VNCRDAG---QDRAGGEEDA---------->G<CV-----RARGRPSEEELQDSRVYVSSL | 2138 |
CACNA1A | ------------------------------>-<--------------RSPSEGREHMAHRQ | 2261 |
CACNA1B | TSQSHPL---RRVPNGYHCTLG-LS----->-<--------SGGR--ARHSYHHPDQDHWC | 2340 |
CACNA1D | SHRQDYE---LQDFGPGYSD---------->E<-E-----PDPGR-DEEDLADEMICITTL | 2181 |
CACNA1E | RHSW-------QMPNGHYRRRR-RG----->G<PG-----PGMMCGAVNNLLSDTEEDDKC | 2313 |
CACNA1F | ----------------LYSD---------->E<-E-----SILSRFDEEDLGDEMACVHAL | 1977 |
CACNA1G | SDPADLD----------------------->-<---------------------------P | 2377 |
CACNA1H | IVPLEPPESEPPMPVGDPPEKRRGLYLTVP>Q<-CPLEKPGSPSA--TPA-PG-GGADDPV | 2353 |
CACNA1I | PPGRAPLPMGLGPLAPP------------->-<------PQPLPG--ELE-PGDAASKRKR | 2223 |
CACNA1S | LNL--------------------------->-<-G-----SSLGSLDQHQGSQETLIPPRL | 1873 |
SCN10A | ------------------------------>-<------------------TSMELIAPGP | 1956 |
SCN11A | ------------------------------>-<---------------------------D | 1791 |
SCN1A | ------------------------------>-<------------------KG-------K | 2009 |
SCN2A | ------------------------------>-<------------------KGKDIRESKK | 2005 |
SCN3A | ------------------------------>-<------------------KGKEVRENQK | 2000 |
SCN4A | ------------------------------>-<------------------VRPGVKESLV | 1836 |
SCN5A | ------------------------------>-<--------------DFPPSPDRDRESIV | 2016 |
SCN7A | ------------------------------>-<-----------------------IQSQI | 1682 |
SCN8A | ------------------------------>-<------------------RQKEVRESKC | 1980 |
SCN9A | ------------------------------>-<------------------KGKDSKESKK | 1977 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2115A | c.6344G>C | Putative Benign | rs199694744 | SIFT: tolerated Polyphen: benign | |
p.G2115C | c.6343G>T | Putative Benign | SIFT: Polyphen: |