Paralogue Annotation for SCN5A residue 1969

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1969
Reference Amino Acid: S - Serine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1969

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	M1977L	Acute encephalopathy	Low	1	22309220

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	---------------------------SSI>S<STSF-P----------PSYDSVT-------	1981
SCN1A	---------------------------DLT>M<STAACP----------PSYDRVT-------	1990
SCN2A	---------------------------DMT>P<STTS-P----------PSYDSVT-------	1979
SCN3A	---------------------------DGS>S<STTS-P----------PSYDSVT-------	1974
SCN4A	---------------------------EKG>E<AGDA-G----------PTMGLMP-------	1809
SCN7A	------------------------------>-<------------------------------
SCN8A	---------------------------EST>P<STAS-L----------PSYDSVT-------	1951
SCN9A	---------------------------DAT>S<STTS-P----------PSYDSVT-------	1951
SCN10A	---------------------------ETA>S<ATSF-P----------PSYESVT-------	1925
SCN11A	---------------------------L-->-<-----------------CNGDLS-------	1779
CACNA1A	------------------------------>-<------------------------------
CACNA1B	------------------------------>-<------------------------------
CACNA1C	----QRPLHINKAGSS-QGDTESPSHEKLV>D<STFTPSSY-------SSTGSNANI--NNAN	1771
CACNA1D	----HRPLHVQRPSIPPASDTEKPLFPPAG>N<SVCHNHHNHNSIGKQVPTSTNANL--NNAN	1782
CACNA1E	------------------------------>-<------------------------------
CACNA1F	----PDSLSFG---P----------SDDDR>G<---------------TPTSSQPSV--PQAG	1714
CACNA1G	---ADT-----------SYILQLPKDAPHL>L<QPHS-APT--------WGTIPKLPPPG---	2121
CACNA1H	---GGE-----------EAEASDPADEEVS>H<ITSS-ACP--------WQPTAEPH------	2118
CACNA1I	RSPRVN-----------CTLLRQATGSDTS>L<DASP-SSS--------AGSL-QTTLED---	2034
CACNA1S	----QRPLQFAEIE---MEEMESPVFLE-->-<D-FPQDPR-------TNPLARANT--NNAN	1665
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1969F	c.5906C>T	Putative Benign			SIFT: Polyphen: