Paralogue Annotation for SCN5A residue 1649

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1649
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1649

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	A1662V	Myoclonic epilepsy, borderline	High	9	23195492

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	PTLFRVIRLARIGRILRLIRGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYSIFGMANF	1679
SCN1A	PTLFRVIRLARIGRILRLIKGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYAIFGMSNF	1692
SCN2A	PTLFRVIRLARIGRILRLIKGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYAIFGMSNF	1682
SCN3A	PTLFRVIRLARIGRILRLIKGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYAIFGMSNF	1677
SCN4A	PTLFRVIRLARIGRVLRLIRGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYSIFGMSNF	1504
SCN7A	PSLVQLILLSRIIHMLRLGKGPKVFHNLML>P<LMLSLPALLNIILLIFLVMFIYAVFGMYNF	1402
SCN8A	PTLFRVIRLARIGRILRLIKGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIFSIFGMSNF	1673
SCN9A	PTLFRVIRLARIGRILRLVKGAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYAIFGMSNF	1655
SCN10A	PTLFRVIRLARIGRILRLIRAAKGIRTLLF>A<LMMSLPALFNIGLLLFLVMFIYSIFGMSSF	1629
SCN11A	PTLFRIVRLARIGRILRLVRAARGIRTLLF>A<LMMSLPSLFNIGLLLFLIMFIYAILGMNWF	1519
CACNA1A	LSFLRLFRA---ARLIKLLRQGYTIRILLW>T<FVQSFKALPYVCLLIAMLFFIYAIIGMQVF	1714
CACNA1B	LSFLRLFRA---ARLIKLLRQGYTIRILLW>T<FVQSFKALPYVCLLIAMLFFIYAIIGMQVF	1622
CACNA1C	ITFFRLFRV---MRLVKLLSRGEGIRTLLW>T<FIKSFQALPYVALLIVMLFFIYAVIGMQVF	1382
CACNA1D	ITFFRLFRV---MRLVKLLSRGEGIRTLLW>T<FIKSFQALPYVALLIAMLFFIYAVIGMQMF	1392
CACNA1E	MSFLKLFRA---ARLIKLLRQGYTIRILLW>T<FVQSFKALPYVCLLIAMLFFIYAIIGMQVF	1629
CACNA1F	ITFFRLFRV---MRLVKLLSKGEGIRTLLW>T<FIKSFQALPYVALLIAMIFFIYAVIGMQMF	1349
CACNA1G	PTIIRIMRVLRIARVLKLLKMAVGMRALLD>T<VMQALPQVGNLGLLFMLLFFIFAALGVELF	1765
CACNA1H	PTIIRIMRVLRIARVLKLLKMATGMRALLD>T<VVQALPQVGNLGLLFMLLFFIYAALGVELF	1771
CACNA1I	PTIIRIMRVLRIARVLKLLKMATGMRALLD>T<VVQALPQVGNLGLLFMLLFFIYAALGVELF	1641
CACNA1S	SAFFRLFRV---MRLIKLLSRAEGVRTLLW>T<FIKSFQALPYVALLIVMLFFIYAVIGMQMF	1289
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1649V	c.4946C>T	Inherited Arrhythmia	BrS	rs199473289	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. Zhonghua Xin Xue Guan Bing Za Zhi. 2006 34(7):616-9. 17081365
		Inherited Arrhythmia	BrS	Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. J Cardiovasc Dis Res. 2010 1(2):69-74. 20877689