Paralogue Annotation for SCN5A residue 1296

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1296
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1296

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L1309F	Generalized epilepsy with febrile seizures plus	Medium	9	20117752

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	WCWLDFLIVDVSLVSLVAN-T----LGFAE>M<GPIKSLRTLRALRPLRALSRFEGMRVVVNA	1326
SCN1A	WCWLDFLIVDVSLVSLTAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA	1339
SCN2A	WCWLDFLIVDVSLVSLTAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA	1329
SCN3A	WCWLDFLIVDVSLVSLVAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA	1327
SCN4A	WCWLDFLIVDVSIISLVAN-W----LGYSE>L<GPIKSLRTLRALRPLRALSRFEGMRVVVNA	1152
SCN7A	WYRLDFVVVIVFCLSLIGK-T----RE--E>-<--LKPLISMKFLRPLRVLSQFERMKVVVRA	1050
SCN8A	WCWLDFLIVAVSLVSLIAN-A----LGYSE>L<GAIKSLRTLRALRPLRALSRFEGMRVVVNA	1319
SCN9A	WCWLDFLIVDVSLVTLVAN-T----LGYSD>L<GPIKSLRTLRALRPLRALSRFEGMRVVVNA	1302
SCN10A	WCWLDFLIVNISLISLTAK-I----LEYSE>V<APIKALRTLRALRPLRALSRFEGMRVVVDA	1273
SCN11A	WCCLDFIIVIVSVTTLI---------N--->L<MELKSFRTLRALRPLRALSQFEGMKVVVNA	1170
CACNA1A	WNILDFIVVSGALVAFAFTGN----SKGKD>I<NTIKSLRVLRVLRPLKTIKRLPKLKAVFDC	1369
CACNA1B	WNILDFIVVSGALVAFAFS-G----SKGKD>I<NTIKSLRVLRVLRPLKTIKRLPKLKAVFDC	1275
CACNA1C	FNILDLLVVSVSLISF----G----IQSSA>I<NVVKILRVLRVLRPLRAINRAKGLKHVVQC	1021
CACNA1D	FNLLDMLVVGVSLVSF----G----IQSSA>I<SVVKILRVLRVLRPLRAINRAKGLKHVVQC	1027
CACNA1E	WNILDFVVVVGALVAFALANA-LGTNKGRD>I<KTIKSLRVLRVLRPLKTIKRLPKLKAVFDC	1281
CACNA1F	FNMLDLLVVSVSLISF----G----IHSSA>I<SVVKILRVLRVLRPLRAINRAKGLKHVVQC	992
CACNA1G	WNVLDGLLVLISVIDILVS-MVSD-SGTKI>L<GMLRVLRLLRTLRPLRVISRAQGLKLVVET	1404
CACNA1H	WNLLDGLLVLVSLVDIVVA-MASA-GGAKI>L<GVLRVLRLLRTLRPLRVISRAPGLKLVVET	1422
CACNA1I	WNVLDGFLVFVSIIDIVVS-LASA-GGAKI>L<GVLRVLRLLRTLRPLRVISRAPGLKLVVET	1298
CACNA1S	FNMLDLLVVAVSLISM----G----LESSA>I<SVVKILRVLRVLRPLRAINRAKGLKHVVQC	920
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1296T	c.3887T>C	Putative Benign			SIFT: Polyphen: