No paralogue variants have been mapped to residue 2121 for CACNA1C.
CACNA1C | DRAGGEEDA----------GCV-----RAR>G<RPSEEELQDSRVYVSSL | 2138 |
CACNA1A | ------------------------------>-<---RSPSEGREHMAHRQ | 2261 |
CACNA1B | RVPNGYHCTLG-LS--------------SG>G<R--ARHSYHHPDQDHWC | 2340 |
CACNA1D | QDFGPGYSD----------E-E-----PDP>G<R-DEEDLADEMICITTL | 2181 |
CACNA1E | QMPNGHYRRRR-RG-----GPG-----PGM>M<CGAVNNLLSDTEEDDKC | 2313 |
CACNA1F | -----LYSD----------E-E-----SIL>S<RFDEEDLGDEMACVHAL | 1977 |
CACNA1G | ------------------------------>-<----------------P | 2377 |
CACNA1H | PMPVGDPPEKRRGLYLTVPQ-CPLEKPGSP>S<A--TPA-PG-GGADDPV | 2353 |
CACNA1I | GPLAPP--------------------PQPL>P<G--ELE-PGDAASKRKR | 2223 |
CACNA1S | ---------------------G-----SSL>G<SLDQHQGSQETLIPPRL | 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.G2121D | c.6362G>A | Putative Benign | SIFT: Polyphen: |