No paralogue variants have been mapped to residue 419 for CACNA1C.
CACNA1C | IIIGSFFVLNLVLGVLSGEFSKEREKAKAR>G<DFQKLREKQQLEEDLKG------------Y | 437 |
CACNA1A | IIIGSFFMLNLVLGVLSGEFAKERERVENR>R<AFLKLRRQQQIERELNG------------Y | 392 |
CACNA1B | IIIGSFFMLNLVLGVLSGEFAKERERVENR>R<AFLKLRRQQQIERELNG------------Y | 388 |
CACNA1D | IILGSFFVLNLVLGVLSGEFSKEREKAKAR>G<DFQKLREKQQLEEDLKG------------Y | 438 |
CACNA1E | IIIGSFFVLNLVLGVLSGEFAKERERVENR>R<AFMKLRRQQQIERELNG------------Y | 383 |
CACNA1F | VIFGSFFVLNLVLGVLSGEFSKEREKAKAR>G<DFQKQREKQQMEEDLRG------------Y | 404 |
CACNA1G | IIVGSFFMINLCLVVIATQFSETKQRESQL>M<REQRVRFLSNASTLASFSEPGSCYEELLKY | 439 |
CACNA1H | IIVGSFFMINLCLVVIATQFSETKQRESQL>M<REQRARHLSNDSTLASFSEPGSCYEELLKY | 463 |
CACNA1I | IIVGSFFMINLCLVVIATQFSETKQREHRL>M<LEQRQRYLS-SSTVASYAEPGDCYEEIFQY | 441 |
CACNA1S | ILLGSFFILNLVLGVLSGEFTKEREKAKSR>G<TFQKLREKQQLDEDLRG------------Y | 366 |
SCN10A | IFLGSFYLVNLILAVVTMAYEEQNQATTDE>I<EAK-EKKFQEALEMLRK------------E | 428 |
SCN11A | IFLGSFYLINLTLAVVTMAYEEQNKNVAAE>I<EAK-EKMFQEAQQLLKE------------E | 431 |
SCN1A | IFLGSFYLINLILAVVAMAYEEQNQATLEE>A<EQK-EAEFQQMIEQLKK------------Q | 454 |
SCN2A | IFLGSFYLINLILAVVAMAYEEQNQATLEE>A<EQK-EAEFQQMLEQLKK------------Q | 456 |
SCN3A | IFLGSFYLVNLILAVVAMAYEEQNQATLEE>A<EQK-EAEFQQMLEQLKK------------Q | 455 |
SCN4A | IFLGSFYLINLILAVVAMAYAEQNEATLAE>D<KEK-EEEFQQMLEKFKK------------H | 478 |
SCN5A | IFLGSFYLVNLILAVVAMAYEEQNQATIAE>T<EEK-EKRFQEAMEMLKK------------E | 444 |
SCN7A | SFLFSFYMASLFLGILAMAYEEEKQRVGEI>S<KKI-EPKFQQTGKELQE------------G | 425 |
SCN8A | IFVGSFYLVNLILAVVAMAYEEQNQATLEE>A<EQK-EAEFKAMLEQLKK------------Q | 442 |
SCN9A | IFLGSFYLINLILAVVAMAYEEQNQANIEE>A<KQK-ELEFQQMLDRLKK------------E | 433 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G419A | c.1256G>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.Gly419Arg | c.1255G>A | Unknown | SIFT: Polyphen: |