Paralogue Annotation for SCN5A residue 1303

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1303
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1303

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	R1316S	Dravet syndrome	High	9	18930999
CACNA1S	R897S	Hypokalaemic periodic paralysis	High	9	18835861, 22901280
CACNA1A	R1347Q	Hemiplegic migraine, progressive cerebellar ataxia	High	9	15032980
SCN1A	R1316W	Dravet syndrome	High	9	21868258
SCN1A	R1316G	Myoclonic epilepsy of infancy	High	9	23195492
SCN4A	R1129Q	Periodic paralysis	High	9

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	IVDVSLVSLVAN-T----LGFAEMGPIKSL>R<TLRALRPLRALSRFEGMRVVVNALVGAIPS	1333
SCN1A	IVDVSLVSLTAN-A----LGYSELGAIKSL>R<TLRALRPLRALSRFEGMRVVVNALLGAIPS	1346
SCN2A	IVDVSLVSLTAN-A----LGYSELGAIKSL>R<TLRALRPLRALSRFEGMRVVVNALLGAIPS	1336
SCN3A	IVDVSLVSLVAN-A----LGYSELGAIKSL>R<TLRALRPLRALSRFEGMRVVVNALVGAIPS	1334
SCN4A	IVDVSIISLVAN-W----LGYSELGPIKSL>R<TLRALRPLRALSRFEGMRVVVNALLGAIPS	1159
SCN7A	VVIVFCLSLIGK-T----RE--E---LKPL>I<SMKFLRPLRVLSQFERMKVVVRALIKTTLP	1057
SCN8A	IVAVSLVSLIAN-A----LGYSELGAIKSL>R<TLRALRPLRALSRFEGMRVVVNALVGAIPS	1326
SCN9A	IVDVSLVTLVAN-T----LGYSDLGPIKSL>R<TLRALRPLRALSRFEGMRVVVNALIGAIPS	1309
SCN10A	IVNISLISLTAK-I----LEYSEVAPIKAL>R<TLRALRPLRALSRFEGMRVVVDALVGAIPS	1280
SCN11A	IVIVSVTTLI---------N---LMELKSF>R<TLRALRPLRALSQFEGMKVVVNALIGAIPA	1177
CACNA1A	VVSGALVAFAFTGN----SKGKDINTIKSL>R<VLRVLRPLKTIKRLPKLKAVFDCVVNSLKN	1376
CACNA1B	VVSGALVAFAFS-G----SKGKDINTIKSL>R<VLRVLRPLKTIKRLPKLKAVFDCVVNSLKN	1282
CACNA1C	VVSVSLISF----G----IQSSAINVVKIL>R<VLRVLRPLRAINRAKGLKHVVQCVFVAIRT	1028
CACNA1D	VVGVSLVSF----G----IQSSAISVVKIL>R<VLRVLRPLRAINRAKGLKHVVQCVFVAIRT	1034
CACNA1E	VVVGALVAFALANA-LGTNKGRDIKTIKSL>R<VLRVLRPLKTIKRLPKLKAVFDCVVTSLKN	1288
CACNA1F	VVSVSLISF----G----IHSSAISVVKIL>R<VLRVLRPLRAINRAKGLKHVVQCVFVAIRT	999
CACNA1G	LVLISVIDILVS-MVSD-SGTKILGMLRVL>R<LLRTLRPLRVISRAQGLKLVVETLMSSLKP	1411
CACNA1H	LVLVSLVDIVVA-MASA-GGAKILGVLRVL>R<LLRTLRPLRVISRAPGLKLVVETLISSLRP	1429
CACNA1I	LVFVSIIDIVVS-LASA-GGAKILGVLRVL>R<LLRTLRPLRVISRAPGLKLVVETLISSLKP	1305
CACNA1S	VVAVSLISM----G----LESSAISVVKIL>R<VLRVLRPLRAINRAKGLKHVVQCMFVAIST	927
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1303W	c.3907C>T	Putative Benign		rs200334972	SIFT: deleterious Polyphen: probably damaging