No paralogue variants have been mapped to residue 1725 for SCN5A.
SCN5A | QTFANSMLCLFQITTSAGWDGLLSPILNTG>P<PYCDPTLPN-S-NGSRGD---CGSPAVGIL | 1750 |
SCN1A | ETFGNSMICLFQITTSAGWDGLLAPILNSK>P<PDCDPNKVN-PGSSVKGD---CGNPSVGIF | 1764 |
SCN2A | ETFGNSMICLFQITTSAGWDGLLAPILNSG>P<PDCDPDKDH-PGSSVKGD---CGNPSVGIF | 1754 |
SCN3A | ETFGNSMICLFQITTSAGWDGLLAPILNSA>P<PDCDPDTIH-PGSSVKGD---CGNPSVGIF | 1749 |
SCN4A | ETFGNSIICLFEITTSAGWDGLLNPILNSG>P<PDCDPNLEN-PGTSVKGD---CGNPSIGIC | 1576 |
SCN7A | ETFGNSMLCLFQVAIFAGWDGMLDAIFNSK>W<SDCDPDKIN-PGTQVRGD---CGNPSVGIF | 1474 |
SCN8A | ETFGNSMICLFQITTSAGWDGLLLPILN-R>P<PDCSLDKEH-PGSGFKGD---CGNPSVGIF | 1744 |
SCN9A | ETFGNSMICLFQITTSAGWDGLLAPILNSK>P<PDCDPKKVH-PGSSVEGD---CGNPSVGIF | 1727 |
SCN10A | QTFANSMLCLFQITTSAGWDGLLSPILNTG>P<PYCDPNLPN-S-NGTRGD---CGSPAVGII | 1700 |
SCN11A | KTFASSMLCLFQISTSAGWDSLLSPMLRSK>E<S-CN---------SSSEN---CHLPGIATS | 1582 |
CACNA1A | RTFFQALMLLFRSATGEAWHNIMLSCLSG->-<KPCDKNSGIL-----T-R--ECGN-EFAYF | 1789 |
CACNA1B | RTFLQALMLLFRSATGEAWHEIMLSCLSN->-<QACDE---Q------A-NATECGS-DFAYF | 1687 |
CACNA1C | QTFPQAVLLLFRCATGEAWQDIMLACMPG->-<KKCAPESEP-SNSTEGETP--CGS-SFAVF | 1454 |
CACNA1D | QTFPQAVLLLFRCATGEAWQEIMLACLPG->-<KLCDPESDY--NPGE-EYT--CGS-NFAIV | 1462 |
CACNA1E | RSFFGSLMLLFRSATGEAWQEIMLSCLGE->-<KGCEPDTTAPSGQNEN-E--RCGT-DLAYV | 1701 |
CACNA1F | QTFPQAVLLLFRCATGEAWQEIMLASLPG->-<NRCDPESDF--GPGE-EFT--CGS-NFAIA | 1419 |
CACNA1G | RNFGMAFLTLFRVSTGDNWNGIMKDTLRD->-<--CDQEST-----C-------YNT-VISPI | 1829 |
CACNA1H | SNFGMAFLTLFRVSTGDNWNGIMKDTLRE->-<--CSREDKH----C---LS--YLP-ALSPV | 1838 |
CACNA1I | ENFGMAFLTLFQVSTGDNWNGIMKDTLRD->-<--CTHDERS----C---LS--SLQ-FVSPL | 1708 |
CACNA1S | QTFPQAVLLLFRCATGEAWQEILLACSYG->-<KLCDPESDY--APGE-EYT--CGT-NFAYY | 1359 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1725L | c.5174C>T | Inherited Arrhythmia | LQTS | rs199473301 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 |