No paralogue variants have been mapped to residue 2122 for CACNA1C.
CACNA1C | RAGGEEDA----------GCV-----RARG>R<PSEEELQDSRVYVSSL | 2138 |
CACNA1A | ------------------------------>-<--RSPSEGREHMAHRQ | 2261 |
CACNA1B | VPNGYHCTLG-LS--------------SGG>R<--ARHSYHHPDQDHWC | 2340 |
CACNA1D | DFGPGYSD----------E-E-----PDPG>R<-DEEDLADEMICITTL | 2181 |
CACNA1E | MPNGHYRRRR-RG-----GPG-----PGMM>C<GAVNNLLSDTEEDDKC | 2313 |
CACNA1F | ----LYSD----------E-E-----SILS>R<FDEEDLGDEMACVHAL | 1977 |
CACNA1G | ------------------------------>-<---------------P | 2377 |
CACNA1H | MPVGDPPEKRRGLYLTVPQ-CPLEKPGSPS>A<--TPA-PG-GGADDPV | 2353 |
CACNA1I | PLAPP--------------------PQPLP>G<--ELE-PGDAASKRKR | 2223 |
CACNA1S | --------------------G-----SSLG>S<LDQHQGSQETLIPPRL | 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.R2122G | c.6364C>G | Putative Benign | rs1051377 | SIFT: tolerated Polyphen: |