Paralogue Annotation for SCN5A residue 1645

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1645
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1645

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1658R	Myoclonic epilepsy of infancy	High	9	17561957
SCN1A	T1658M	Dravet syndrome	High	9	18930999, 20522430

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	YFFSPTLFRVIRLARIGRILRLIRGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYSIFG	1675
SCN1A	YFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG	1688
SCN2A	YFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG	1678
SCN3A	YFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG	1673
SCN4A	YFVSPTLFRVIRLARIGRVLRLIRGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYSIFG	1500
SCN7A	YLVPPSLVQLILLSRIIHMLRLGKGPKVFH>N<LMLPLMLSLPALLNIILLIFLVMFIYAVFG	1398
SCN8A	YFVSPTLFRVIRLARIGRILRLIKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIFSIFG	1669
SCN9A	YFVSPTLFRVIRLARIGRILRLVKGAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYAIFG	1651
SCN10A	SYFSPTLFRVIRLARIGRILRLIRAAKGIR>T<LLFALMMSLPALFNIGLLLFLVMFIYSIFG	1625
SCN11A	IPFPPTLFRIVRLARIGRILRLVRAARGIR>T<LLFALMMSLPSLFNIGLLLFLIMFIYAILG	1515
CACNA1A	-FINLSFLRLFRA---ARLIKLLRQGYTIR>I<LLWTFVQSFKALPYVCLLIAMLFFIYAIIG	1710
CACNA1B	NFINLSFLRLFRA---ARLIKLLRQGYTIR>I<LLWTFVQSFKALPYVCLLIAMLFFIYAIIG	1618
CACNA1C	SRISITFFRLFRV---MRLVKLLSRGEGIR>T<LLWTFIKSFQALPYVALLIVMLFFIYAVIG	1378
CACNA1D	NRISITFFRLFRV---MRLVKLLSRGEGIR>T<LLWTFIKSFQALPYVALLIAMLFFIYAVIG	1388
CACNA1E	SGFNMSFLKLFRA---ARLIKLLRQGYTIR>I<LLWTFVQSFKALPYVCLLIAMLFFIYAIIG	1625
CACNA1F	SRISITFFRLFRV---MRLVKLLSKGEGIR>T<LLWTFIKSFQALPYVALLIAMIFFIYAVIG	1345
CACNA1G	LPINPTIIRIMRVLRIARVLKLLKMAVGMR>A<LLDTVMQALPQVGNLGLLFMLLFFIFAALG	1761
CACNA1H	LPINPTIIRIMRVLRIARVLKLLKMATGMR>A<LLDTVVQALPQVGNLGLLFMLLFFIYAALG	1767
CACNA1I	LPINPTIIRIMRVLRIARVLKLLKMATGMR>A<LLDTVVQALPQVGNLGLLFMLLFFIYAALG	1637
CACNA1S	ARISSAFFRLFRV---MRLIKLLSRAEGVR>T<LLWTFIKSFQALPYVALLIVMLFFIYAVIG	1285
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1645M	c.4934C>T	Inherited Arrhythmia	LQTS	rs199473288	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Am J Med Genet. 1999 86(5):470-6. 10508990