Paralogue Annotation for SCN5A residue 1269

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1269
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1269

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	S938G	Congenital stationary night blindness	Medium	9	25307992

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	DKMFTYVFVLEMLLKWVAYGF----KKYFT>N<AWCWLDFLIVDVSLVSLVAN-T----LGFA	1294
SCN1A	DKVFTYIFILEMLLKWVAYGY----QTYFT>N<AWCWLDFLIVDVSLVSLTAN-A----LGYS	1307
SCN2A	DKVFTYIFILEMLLKWVAYGF----QVYFT>N<AWCWLDFLIVDVSLVSLTAN-A----LGYS	1297
SCN3A	DKVFTYIFILEMLLKWVAYGF----QTYFT>N<AWCWLDFLIVDVSLVSLVAN-A----LGYS	1295
SCN4A	DKVFTYIFIMEMLLKWVAYGF----KVYFT>N<AWCWLDFLIVDVSIISLVAN-W----LGYS	1120
SCN7A	DMIFTYIFILEMLLKWMAYGF----KAYFS>N<GWYRLDFVVVIVFCLSLIGK-T----RE--	1021
SCN8A	DKVFTYIFILEMLLKWTAYGF----VKFFT>N<AWCWLDFLIVAVSLVSLIAN-A----LGYS	1287
SCN9A	DKIFTYIFILEMLLKWIAYGY----KTYFT>N<AWCWLDFLIVDVSLVTLVAN-T----LGYS	1270
SCN10A	DRVFTFIFVFEMLLKWVAYGF----KKYFT>N<AWCWLDFLIVNISLISLTAK-I----LEYS	1241
SCN11A	DIIFTHIFILEMVLKWVAFGF----GKYFT>S<AWCCLDFIIVIVSVTTLI---------N--	1139
CACNA1A	DYVFTGVFTFEMVIKMIDLGLVLHQGAYFR>D<LWNILDFIVVSGALVAFAFTGN----SKGK	1337
CACNA1B	DYIFTGVFTFEMVIKMIDLGLLLHPGAYFR>D<LWNILDFIVVSGALVAFAFS-G----SKGK	1243
CACNA1C	DIVFTTIFTIEIALKMTAYGAFLHKGSFCR>N<YFNILDLLVVSVSLISF----G----IQSS	989
CACNA1D	DYAFTAIFTVEILLKMTTFGAFLHKGAFCR>N<YFNLLDMLVVGVSLVSF----G----IQSS	995
CACNA1E	DYVFTGVFTFEMVIKMIDQGLILQDGSYFR>D<LWNILDFVVVVGALVAFALANA-LGTNKGR	1249
CACNA1F	DYAFTSIFTVEILLKMTVFGAFLHRGSFCR>S<WFNMLDLLVVSVSLISF----G----IHSS	960
CACNA1G	NYIFTAVFLAEMTVKVVALGWCFGEQAYLR>S<SWNVLDGLLVLISVIDILVS-MVSD-SGTK	1372
CACNA1H	NYIFTAIFVAEMMVKVVALGLLSGEHAYLQ>S<SWNLLDGLLVLVSLVDIVVA-MASA-GGAK	1390
CACNA1I	NYIFTAIFVGEMTLKVVSLGLYFGEQAYLR>S<SWNVLDGFLVFVSIIDIVVS-LASA-GGAK	1266
CACNA1S	DIGFTSVFTVEIVLKMTTYGAFLHKGSFCR>N<YFNMLDLLVVAVSLISM----G----LESS	888
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1269S	c.3806A>G	Inherited Arrhythmia	BrS		SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	BrS	Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing: Implications for Genetic Testing. J Am Coll Cardiol. 2012 60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. 22840528