No paralogue variants have been mapped to residue 1754 for SCN5A.
SCN5A | DPTLPN-S-NGSRGD---CGSPAVGILFFT>T<YIIISFLIVVNMYIAIILENFSVATEESTE | 1784 |
SCN1A | DPNKVN-PGSSVKGD---CGNPSVGIFFFV>S<YIIISFLVVVNMYIAVILENFSVATEESAE | 1798 |
SCN2A | DPDKDH-PGSSVKGD---CGNPSVGIFFFV>S<YIIISFLVVVNMYIAVILENFSVATEESAE | 1788 |
SCN3A | DPDTIH-PGSSVKGD---CGNPSVGIFFFV>S<YIIISFLVVVNMYIAVILENFSVATEESAE | 1783 |
SCN4A | DPNLEN-PGTSVKGD---CGNPSIGICFFC>S<YIIISFLIVVNMYIAIILENFNVATEESSE | 1610 |
SCN7A | DPDKIN-PGTQVRGD---CGNPSVGIFYFV>S<YILISWLIIVNMYIVVVMEFLNIASKKKNK | 1508 |
SCN8A | SLDKEH-PGSGFKGD---CGNPSVGIFFFV>S<YIIISFLIVVNMYIAIILENFSVATEESAD | 1778 |
SCN9A | DPKKVH-PGSSVEGD---CGNPSVGIFYFV>S<YIIISFLVVVNMYIAVILENFSVATEESTE | 1761 |
SCN10A | DPNLPN-S-NGTRGD---CGSPAVGIIFFT>T<YIIISFLIMVNMYIAVILENFNVATEESTE | 1734 |
SCN11A | N---------SSSEN---CHLPGIATSYFV>S<YIIISFLIVVNMYIAVILENFNTATEESED | 1616 |
CACNA1A | DKNSGIL-----T-R--ECGN-EFAYFYFV>S<FIFLCSFLMLNLFVAVIMDNFEYLTRDSSI | 1823 |
CACNA1B | DE---Q------A-NATECGS-DFAYFYFV>S<FIFLCSFLMLNLFVAVIMDNFEYLTRDSSI | 1721 |
CACNA1C | APESEP-SNSTEGETP--CGS-SFAVFYFI>S<FYMLCAFLIINLFVAVIMDNFDYLTRDWSI | 1488 |
CACNA1D | DPESDY--NPGE-EYT--CGS-NFAIVYFI>S<FYMLCAFLIINLFVAVIMDNFDYLTRDWSI | 1496 |
CACNA1E | EPDTTAPSGQNEN-E--RCGT-DLAYVYFV>S<FIFFCSFLMLNLFVAVIMDNFEYLTRDSSI | 1735 |
CACNA1F | DPESDF--GPGE-EFT--CGS-NFAIAYFI>S<FFMLCAFLIINLFVAVIMDNFDYLTRDWSI | 1453 |
CACNA1G | DQEST-----C-------YNT-VISPIYFV>S<FVLTAQFVLVNVVIAVLMKHLEESNKEAKE | 1863 |
CACNA1H | SREDKH----C---LS--YLP-ALSPVYFV>T<FVLVAQFVLVNVVVAVLMKHLEESNKEARE | 1872 |
CACNA1I | THDERS----C---LS--SLQ-FVSPLYFV>S<FVLTAQFVLINVVVAVLMKHLDDSNKEAQE | 1742 |
CACNA1S | DPESDY--APGE-EYT--CGT-NFAYYYFI>S<FYMLCAFLVINLFVAVIMDNFDYLTRDWSI | 1393 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Thr1754Ser | c.5260A>T | Unknown | SIFT: Polyphen: |