Paralogue Annotation for SCN5A residue 1793

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1793
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1793

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1C	E1496K	Long QT, non-syndromic	Medium	8	25633834, 25633834

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	VVNMYIAIILENFSVATEESTEPLSEDDFD>M<FYEIWEKFDPEATQFIEYSVLSDFADALSE	1823
SCN1A	VVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFMEFEKLSQFAAALEP	1837
SCN2A	VVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFIEFAKLSDFADALDP	1827
SCN3A	VVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFIEFSKLSDFAAALDP	1822
SCN4A	VVNMYIAIILENFNVATEESSEPLGEDDFE>M<FYETWEKFDPDATQFIAYSRLSDFVDTLQE	1649
SCN7A	IVNMYIVVVMEFLNIASKKKNKTLSEDDFR>K<FFQVWKRFDPDRTQYIDSSKLSDFAAALDP	1547
SCN8A	VVNMYIAIILENFSVATEESADPLSEDDFE>T<FYEIWEKFDPDATQFIEYCKLADFADALEH	1817
SCN9A	VVNMYIAVILENFSVATEESTEPLSEDDFE>M<FYEVWEKFDPDATQFIEFSKLSDFAAALDP	1800
SCN10A	MVNMYIAVILENFNVATEESTEPLSEDDFD>M<FYETWEKFDPEATQFITFSALSDFADTLSG	1773
SCN11A	VVNMYIAVILENFNTATEESEDPLGEDDFD>I<FYEVWEKFDPEATQFIKYSALSDFADALPE	1655
CACNA1A	MLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<YVRVWAEYDPAACGRIHYKDMYSLLRVISP	1861
CACNA1B	MLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<FIRVWAEYDPAACGRISYNDMFEMLKHMSP	1759
CACNA1C	IINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWAEYDPEAKGRIKHLDVVTLLRRIQP	1526
CACNA1D	IINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWSEYDPEAKGRIKHLDVVTLLRRIQP	1534
CACNA1E	MLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<FVRVWAEYDRAACGRIHYTEMYEMLTLMSP	1773
CACNA1F	IINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWSEYDPGAKGRIKHLDVVALLRRIQP	1491
CACNA1G	LVNVVIAVLMKHLEESNKEAKE---EAELE>A<ELELEMKT-LSPQPHSPLGSPF-LWPGVEG	1897
CACNA1H	LVNVVVAVLMKHLEESNKEARE---DAELD>A<EIELEMAQGPGSARRVDADRP---------	1899
CACNA1I	LINVVVAVLMKHLDDSNKEAQE---DAEMD>A<ELELEMAHGLGPGPRLPTGSPGAPGR---G	1775
CACNA1S	VINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKAIWAEYDPEAKGRIKHLDVVTLLRRIQP	1431
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Met1793Lys	c.5378T>A	Unknown			SIFT: Polyphen: