Paralogue Annotation for SCN5A residue 1320

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1320
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1320

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	M1333T	Generalized epilepsy with febrile seizures plus	High	9	21425109
SCN2A	M1323V	Ohtahara syndrome	High	9	23935176

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	-LGFAEMGPIKSLRTLRALRPLRALSRFEG>M<RVVVNALVGAIPSIMNVLLVCLIFWLIFSI	1350
SCN1A	-LGYSELGAIKSLRTLRALRPLRALSRFEG>M<RVVVNALLGAIPSIMNVLLVCLIFWLIFSI	1363
SCN2A	-LGYSELGAIKSLRTLRALRPLRALSRFEG>M<RVVVNALLGAIPSIMNVLLVCLIFWLIFSI	1353
SCN3A	-LGYSELGAIKSLRTLRALRPLRALSRFEG>M<RVVVNALVGAIPSIMNVLLVCLIFWLIFSI	1351
SCN4A	-LGYSELGPIKSLRTLRALRPLRALSRFEG>M<RVVVNALLGAIPSIMNVLLVCLIFWLIFSI	1176
SCN7A	-RE--E---LKPLISMKFLRPLRVLSQFER>M<KVVVRALIKTTLPTLNVFLVCLMIWLIFSI	1074
SCN8A	-LGYSELGAIKSLRTLRALRPLRALSRFEG>M<RVVVNALVGAIPSIMNVLLVCLIFWLIFSI	1343
SCN9A	-LGYSDLGPIKSLRTLRALRPLRALSRFEG>M<RVVVNALIGAIPSIMNVLLVCLIFWLIFSI	1326
SCN10A	-LEYSEVAPIKALRTLRALRPLRALSRFEG>M<RVVVDALVGAIPSIMNVLLVCLIFWLIFSI	1297
SCN11A	--N---LMELKSFRTLRALRPLRALSQFEG>M<KVVVNALIGAIPAILNVLLVCLIFWLVFCI	1194
CACNA1A	-SKGKDINTIKSLRVLRVLRPLKTIKRLPK>L<KAVFDCVVNSLKNVFNILIVYMLFMFIFAV	1393
CACNA1B	-SKGKDINTIKSLRVLRVLRPLKTIKRLPK>L<KAVFDCVVNSLKNVLNILIVYMLFMFIFAV	1299
CACNA1C	-IQSSAINVVKILRVLRVLRPLRAINRAKG>L<KHVVQCVFVAIRTIGNIVIVTTLLQFMFAC	1045
CACNA1D	-IQSSAISVVKILRVLRVLRPLRAINRAKG>L<KHVVQCVFVAIRTIGNIMIVTTLLQFMFAC	1051
CACNA1E	TNKGRDIKTIKSLRVLRVLRPLKTIKRLPK>L<KAVFDCVVTSLKNVFNILIVYKLFMFIFAV	1305
CACNA1F	-IHSSAISVVKILRVLRVLRPLRAINRAKG>L<KHVVQCVFVAIRTIGNIMIVTTLLQFMFAC	1016
CACNA1G	-SGTKILGMLRVLRLLRTLRPLRVISRAQG>L<KLVVETLMSSLKPIGNIVVICCAFFIIFGI	1428
CACNA1H	-GGAKILGVLRVLRLLRTLRPLRVISRAPG>L<KLVVETLISSLRPIGNIVLICCAFFIIFGI	1446
CACNA1I	-GGAKILGVLRVLRLLRTLRPLRVISRAPG>L<KLVVETLISSLKPIGNIVLICCAFFIIFGI	1322
CACNA1S	-LESSAISVVKILRVLRVLRPLRAINRAKG>L<KHVVQCMFVAISTIGNIVLVTTLLQFMFAC	944
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1320I	c.3960G>A	Putative Benign			SIFT: Polyphen: