Paralogue Annotation for SCN5A residue 1326

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1326
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1326

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	A1152D	Paramyotonia congenita	High	9	15790667
CACNA1A	C1370Y	Hemiplegic migraine	Medium	9	17142831, 21768184
SCN1A	A1339V	Myoclonic epilepsy of infancy	High	9	23195492, 22092154

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	MGPIKSLRTLRALRPLRALSRFEGMRVVVN>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1356
SCN1A	LGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LLGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1369
SCN2A	LGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LLGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1359
SCN3A	LGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1357
SCN4A	LGPIKSLRTLRALRPLRALSRFEGMRVVVN>A<LLGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1182
SCN7A	---LKPLISMKFLRPLRVLSQFERMKVVVR>A<LIKTTLPTLNVFLVCLMIWLIFSIMGVDLF	1080
SCN8A	LGAIKSLRTLRALRPLRALSRFEGMRVVVN>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1349
SCN9A	LGPIKSLRTLRALRPLRALSRFEGMRVVVN>A<LIGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1332
SCN10A	VAPIKALRTLRALRPLRALSRFEGMRVVVD>A<LVGAIPSIMNVLLVCLIFWLIFSIMGVNLF	1303
SCN11A	LMELKSFRTLRALRPLRALSQFEGMKVVVN>A<LIGAIPAILNVLLVCLIFWLVFCILGVYFF	1200
CACNA1A	INTIKSLRVLRVLRPLKTIKRLPKLKAVFD>C<VVNSLKNVFNILIVYMLFMFIFAVVAVQLF	1399
CACNA1B	INTIKSLRVLRVLRPLKTIKRLPKLKAVFD>C<VVNSLKNVLNILIVYMLFMFIFAVIAVQLF	1305
CACNA1C	INVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<VFVAIRTIGNIVIVTTLLQFMFACIGVQLF	1051
CACNA1D	ISVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<VFVAIRTIGNIMIVTTLLQFMFACIGVQLF	1057
CACNA1E	IKTIKSLRVLRVLRPLKTIKRLPKLKAVFD>C<VVTSLKNVFNILIVYKLFMFIFAVIAVQLF	1311
CACNA1F	ISVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<VFVAIRTIGNIMIVTTLLQFMFACIGVQLF	1022
CACNA1G	LGMLRVLRLLRTLRPLRVISRAQGLKLVVE>T<LMSSLKPIGNIVVICCAFFIIFGILGVQLF	1434
CACNA1H	LGVLRVLRLLRTLRPLRVISRAPGLKLVVE>T<LISSLRPIGNIVLICCAFFIIFGILGVQLF	1452
CACNA1I	LGVLRVLRLLRTLRPLRVISRAPGLKLVVE>T<LISSLKPIGNIVLICCAFFIIFGILGVQLF	1328
CACNA1S	ISVVKILRVLRVLRPLRAINRAKGLKHVVQ>C<MFVAISTIGNIVLVTTLLQFMFACIGVQLF	950
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1326S	c.3976G>T	Inherited Arrhythmia	LQTS	rs199473222	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085