No paralogue variants have been mapped to residue 2117 for CACNA1C.
CACNA1C | CRDAG---QDRAGGEEDA----------GC>V<-----RARGRPSEEELQDSRVYVSSL | 2138 |
CACNA1A | ------------------------------>-<------------RSPSEGREHMAHRQ | 2261 |
CACNA1B | QSHPL---RRVPNGYHCTLG-LS------->-<------SGGR--ARHSYHHPDQDHWC | 2340 |
CACNA1D | RQDYE---LQDFGPGYSD----------E->E<-----PDPGR-DEEDLADEMICITTL | 2181 |
CACNA1E | SW-------QMPNGHYRRRR-RG-----GP>G<-----PGMMCGAVNNLLSDTEEDDKC | 2313 |
CACNA1F | --------------LYSD----------E->E<-----SILSRFDEEDLGDEMACVHAL | 1977 |
CACNA1G | PADLD------------------------->-<-------------------------P | 2377 |
CACNA1H | PLEPPESEPPMPVGDPPEKRRGLYLTVPQ->C<PLEKPGSPSA--TPA-PG-GGADDPV | 2353 |
CACNA1I | GRAPLPMGLGPLAPP--------------->-<----PQPLPG--ELE-PGDAASKRKR | 2223 |
CACNA1S | L----------------------------->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.V2117A | c.6350T>C | Putative Benign | rs372730703 | SIFT: tolerated Polyphen: benign |