No paralogue variants have been mapped to residue 493 for CACNA1C.
CACNA1C | ----------------------------AR>L<-------------------AHR-ISKSKFS | 503 |
CACNA1A | -----------------------SP--FAR>A<-------------------SIK-SAKLENS | 466 |
CACNA1B | -----------------------SP--FAR>A<-------------------SLK-SGKTESS | 462 |
CACNA1D | KA---------------------GPSGCRR>W<-------------------GQA-ISKSKLS | 522 |
CACNA1E | -----------------------TP--LAR>A<-------------------SIK-SAKVDGV | 455 |
CACNA1F | EG---------------------ALASCTR>C<-------------------LNK-IMKTRVC | 508 |
CACNA1G | MP-DSDSEAVYEFTQDAQHSDLRDPH-SRR>Q<---R------------------SLGPDAEP | 722 |
CACNA1H | SG-DSDGRGVYEFTQDVRHGDRWDP--TRP>P<RATDTPGPG---PGSPQRRAQQRAAPGE-P | 772 |
CACNA1I | SGQEGSGSGSSAGGEDE-A---DGD--GAR>S<---SEDGASSELG--KEEEEEE-QADGA-V | 619 |
CACNA1S | AG---------------------------->-<-------------------LNK-I--IQFI | 411 |
SCN10A | SE---------------------QK--CPP>C<-------------------LTS-LSQKYLI | 644 |
SCN11A | SQ---------------------EP--CLP>C<-------------------GEN-LASKYLV | 556 |
SCN1A | SR---------------------QK--CPP>C<-------------------WYK-FSNIFLI | 747 |
SCN2A | SR---------------------QK--CPP>C<-------------------WYK-FANMCLI | 738 |
SCN3A | SR---------------------QK--CPP>C<-------------------WYR-FANVFLI | 739 |
SCN4A | AH---------------------QK--CPP>W<-------------------WYK-CAHKVLI | 557 |
SCN5A | SR---------------------HK--CPP>C<-------------------WNR-LAQRYLI | 696 |
SCN7A | SK---------------------KI--CPL>Y<-------------------WYK-FAKTFLI | 484 |
SCN8A | SQ---------------------RK--CPP>C<-------------------WYK-FANTFLI | 732 |
SCN9A | SR---------------------QK--CPP>W<-------------------WYR-FAHKFLI | 712 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L493M | c.1477C>A | Putative Benign | rs376530064 | SIFT: tolerated Polyphen: benign |