No paralogue variants have been mapped to residue 1430 for CACNA1C.
CACNA1C | FPQAVLLLFRCATGEAWQDIMLACMPG--K>K<CAPESEP-SNSTEGETP--CGS-SFAVFYF | 1456 |
CACNA1A | FFQALMLLFRSATGEAWHNIMLSCLSG--K>P<CDKNSGIL-----T-R--ECGN-EFAYFYF | 1791 |
CACNA1B | FLQALMLLFRSATGEAWHEIMLSCLSN--Q>A<CDE---Q------A-NATECGS-DFAYFYF | 1689 |
CACNA1D | FPQAVLLLFRCATGEAWQEIMLACLPG--K>L<CDPESDY--NPGE-EYT--CGS-NFAIVYF | 1464 |
CACNA1E | FFGSLMLLFRSATGEAWQEIMLSCLGE--K>G<CEPDTTAPSGQNEN-E--RCGT-DLAYVYF | 1703 |
CACNA1F | FPQAVLLLFRCATGEAWQEIMLASLPG--N>R<CDPESDF--GPGE-EFT--CGS-NFAIAYF | 1421 |
CACNA1G | FGMAFLTLFRVSTGDNWNGIMKDTLRD--->-<CDQEST-----C-------YNT-VISPIYF | 1831 |
CACNA1H | FGMAFLTLFRVSTGDNWNGIMKDTLRE--->-<CSREDKH----C---LS--YLP-ALSPVYF | 1840 |
CACNA1I | FGMAFLTLFQVSTGDNWNGIMKDTLRD--->-<CTHDERS----C---LS--SLQ-FVSPLYF | 1710 |
CACNA1S | FPQAVLLLFRCATGEAWQEILLACSYG--K>L<CDPESDY--APGE-EYT--CGT-NFAYYYF | 1361 |
SCN10A | FANSMLCLFQITTSAGWDGLLSPILNTGPP>Y<CDPNLPN-S-NGTRGD---CGSPAVGIIFF | 1702 |
SCN11A | FASSMLCLFQISTSAGWDSLLSPMLRSKES>-<CN---------SSSEN---CHLPGIATSYF | 1584 |
SCN1A | FGNSMICLFQITTSAGWDGLLAPILNSKPP>D<CDPNKVN-PGSSVKGD---CGNPSVGIFFF | 1766 |
SCN2A | FGNSMICLFQITTSAGWDGLLAPILNSGPP>D<CDPDKDH-PGSSVKGD---CGNPSVGIFFF | 1756 |
SCN3A | FGNSMICLFQITTSAGWDGLLAPILNSAPP>D<CDPDTIH-PGSSVKGD---CGNPSVGIFFF | 1751 |
SCN4A | FGNSIICLFEITTSAGWDGLLNPILNSGPP>D<CDPNLEN-PGTSVKGD---CGNPSIGICFF | 1578 |
SCN5A | FANSMLCLFQITTSAGWDGLLSPILNTGPP>Y<CDPTLPN-S-NGSRGD---CGSPAVGILFF | 1752 |
SCN7A | FGNSMLCLFQVAIFAGWDGMLDAIFNSKWS>D<CDPDKIN-PGTQVRGD---CGNPSVGIFYF | 1476 |
SCN8A | FGNSMICLFQITTSAGWDGLLLPILN-RPP>D<CSLDKEH-PGSGFKGD---CGNPSVGIFFF | 1746 |
SCN9A | FGNSMICLFQITTSAGWDGLLAPILNSKPP>D<CDPKKVH-PGSSVEGD---CGNPSVGIFYF | 1729 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1430T | c.4289A>C | Putative Benign | SIFT: Polyphen: |