No paralogue variants have been mapped to residue 1783 for SCN5A.
SCN5A | TTYIIISFLIVVNMYIAIILENFSVATEES>T<EPLSEDDFDMFYEIWEKFDPEATQFIEYSV | 1813 |
SCN1A | VSYIIISFLVVVNMYIAVILENFSVATEES>A<EPLSEDDFEMFYEVWEKFDPDATQFMEFEK | 1827 |
SCN2A | VSYIIISFLVVVNMYIAVILENFSVATEES>A<EPLSEDDFEMFYEVWEKFDPDATQFIEFAK | 1817 |
SCN3A | VSYIIISFLVVVNMYIAVILENFSVATEES>A<EPLSEDDFEMFYEVWEKFDPDATQFIEFSK | 1812 |
SCN4A | CSYIIISFLIVVNMYIAIILENFNVATEES>S<EPLGEDDFEMFYETWEKFDPDATQFIAYSR | 1639 |
SCN7A | VSYILISWLIIVNMYIVVVMEFLNIASKKK>N<KTLSEDDFRKFFQVWKRFDPDRTQYIDSSK | 1537 |
SCN8A | VSYIIISFLIVVNMYIAIILENFSVATEES>A<DPLSEDDFETFYEIWEKFDPDATQFIEYCK | 1807 |
SCN9A | VSYIIISFLVVVNMYIAVILENFSVATEES>T<EPLSEDDFEMFYEVWEKFDPDATQFIEFSK | 1790 |
SCN10A | TTYIIISFLIMVNMYIAVILENFNVATEES>T<EPLSEDDFDMFYETWEKFDPEATQFITFSA | 1763 |
SCN11A | VSYIIISFLIVVNMYIAVILENFNTATEES>E<DPLGEDDFDIFYEVWEKFDPEATQFIKYSA | 1645 |
CACNA1A | VSFIFLCSFLMLNLFVAVIMDNFEYLTRDS>S<I-LGPHHLDEYVRVWAEYDPAACGRIHYKD | 1851 |
CACNA1B | VSFIFLCSFLMLNLFVAVIMDNFEYLTRDS>S<I-LGPHHLDEFIRVWAEYDPAACGRISYND | 1749 |
CACNA1C | ISFYMLCAFLIINLFVAVIMDNFDYLTRDW>S<I-LGPHHLDEFKRIWAEYDPEAKGRIKHLD | 1516 |
CACNA1D | ISFYMLCAFLIINLFVAVIMDNFDYLTRDW>S<I-LGPHHLDEFKRIWSEYDPEAKGRIKHLD | 1524 |
CACNA1E | VSFIFFCSFLMLNLFVAVIMDNFEYLTRDS>S<I-LGPHHLDEFVRVWAEYDRAACGRIHYTE | 1763 |
CACNA1F | ISFFMLCAFLIINLFVAVIMDNFDYLTRDW>S<I-LGPHHLDEFKRIWSEYDPGAKGRIKHLD | 1481 |
CACNA1G | VSFVLTAQFVLVNVVIAVLMKHLEESNKEA>K<E---EAELEAELELEMKT-LSPQPHSPLGS | 1888 |
CACNA1H | VTFVLVAQFVLVNVVVAVLMKHLEESNKEA>R<E---DAELDAEIELEMAQGPGSARRVDADR | 1898 |
CACNA1I | VSFVLTAQFVLINVVVAVLMKHLDDSNKEA>Q<E---DAEMDAELELEMAHGLGPGPRLPTGS | 1768 |
CACNA1S | ISFYMLCAFLVINLFVAVIMDNFDYLTRDW>S<I-LGPHHLDEFKAIWAEYDPEAKGRIKHLD | 1421 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Thr1783Ser | c.5348C>G | Unknown | SIFT: Polyphen: |