No paralogue variants have been mapped to residue 2124 for CACNA1C.
CACNA1C | GGEEDA----------GCV-----RARGRP>S<EEELQDSRVYVSSL | 2138 |
CACNA1A | ------------------------------>-<RSPSEGREHMAHRQ | 2261 |
CACNA1B | NGYHCTLG-LS--------------SGGR->-<ARHSYHHPDQDHWC | 2340 |
CACNA1D | GPGYSD----------E-E-----PDPGR->D<EEDLADEMICITTL | 2181 |
CACNA1E | NGHYRRRR-RG-----GPG-----PGMMCG>A<VNNLLSDTEEDDKC | 2313 |
CACNA1F | --LYSD----------E-E-----SILSRF>D<EEDLGDEMACVHAL | 1977 |
CACNA1G | ------------------------------>-<-------------P | 2377 |
CACNA1H | VGDPPEKRRGLYLTVPQ-CPLEKPGSPSA->-<TPA-PG-GGADDPV | 2353 |
CACNA1I | APP--------------------PQPLPG->-<ELE-PGDAASKRKR | 2223 |
CACNA1S | ------------------G-----SSLGSL>D<QHQGSQETLIPPRL | 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.Ser2124Asn | c.6371G>A | Unknown | SIFT: Polyphen: |