No paralogue variants have been mapped to residue 1785 for SCN5A.
SCN5A | YIIISFLIVVNMYIAIILENFSVATEESTE>P<LSEDDFDMFYEIWEKFDPEATQFIEYSVLS | 1815 |
SCN1A | YIIISFLVVVNMYIAVILENFSVATEESAE>P<LSEDDFEMFYEVWEKFDPDATQFMEFEKLS | 1829 |
SCN2A | YIIISFLVVVNMYIAVILENFSVATEESAE>P<LSEDDFEMFYEVWEKFDPDATQFIEFAKLS | 1819 |
SCN3A | YIIISFLVVVNMYIAVILENFSVATEESAE>P<LSEDDFEMFYEVWEKFDPDATQFIEFSKLS | 1814 |
SCN4A | YIIISFLIVVNMYIAIILENFNVATEESSE>P<LGEDDFEMFYETWEKFDPDATQFIAYSRLS | 1641 |
SCN7A | YILISWLIIVNMYIVVVMEFLNIASKKKNK>T<LSEDDFRKFFQVWKRFDPDRTQYIDSSKLS | 1539 |
SCN8A | YIIISFLIVVNMYIAIILENFSVATEESAD>P<LSEDDFETFYEIWEKFDPDATQFIEYCKLA | 1809 |
SCN9A | YIIISFLVVVNMYIAVILENFSVATEESTE>P<LSEDDFEMFYEVWEKFDPDATQFIEFSKLS | 1792 |
SCN10A | YIIISFLIMVNMYIAVILENFNVATEESTE>P<LSEDDFDMFYETWEKFDPEATQFITFSALS | 1765 |
SCN11A | YIIISFLIVVNMYIAVILENFNTATEESED>P<LGEDDFDIFYEVWEKFDPEATQFIKYSALS | 1647 |
CACNA1A | FIFLCSFLMLNLFVAVIMDNFEYLTRDSSI>-<LGPHHLDEYVRVWAEYDPAACGRIHYKDMY | 1853 |
CACNA1B | FIFLCSFLMLNLFVAVIMDNFEYLTRDSSI>-<LGPHHLDEFIRVWAEYDPAACGRISYNDMF | 1751 |
CACNA1C | FYMLCAFLIINLFVAVIMDNFDYLTRDWSI>-<LGPHHLDEFKRIWAEYDPEAKGRIKHLDVV | 1518 |
CACNA1D | FYMLCAFLIINLFVAVIMDNFDYLTRDWSI>-<LGPHHLDEFKRIWSEYDPEAKGRIKHLDVV | 1526 |
CACNA1E | FIFFCSFLMLNLFVAVIMDNFEYLTRDSSI>-<LGPHHLDEFVRVWAEYDRAACGRIHYTEMY | 1765 |
CACNA1F | FFMLCAFLIINLFVAVIMDNFDYLTRDWSI>-<LGPHHLDEFKRIWSEYDPGAKGRIKHLDVV | 1483 |
CACNA1G | FVLTAQFVLVNVVIAVLMKHLEESNKEAKE>-<--EAELEAELELEMKT-LSPQPHSPLGSPF | 1890 |
CACNA1H | FVLVAQFVLVNVVVAVLMKHLEESNKEARE>-<--DAELDAEIELEMAQGPGSARRVDADRP- | 1899 |
CACNA1I | FVLTAQFVLINVVVAVLMKHLDDSNKEAQE>-<--DAEMDAELELEMAHGLGPGPRLPTGSPG | 1770 |
CACNA1S | FYMLCAFLVINLFVAVIMDNFDYLTRDWSI>-<LGPHHLDEFKAIWAEYDPEAKGRIKHLDVV | 1423 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1785H | c.5354C>A | Putative Benign | rs113727926 | SIFT: deleterious Polyphen: probably damaging |