Paralogue Annotation for SCN5A residue 1606

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1606
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1606

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	M1619V	Intractable epilepsy	Medium	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	VKLAALR-HYYFTNSWNIFDFVVVILSIVG>T<VLSDIIQ----------------------K	1614
SCN1A	LKLISLR-HYYFTIGWNIFDFVVVILSIVG>M<FLAELIE----------------------K	1627
SCN2A	LKLISLR-YYYFTIGWNIFDFVVVILSIVG>M<FLAELIE----------------------K	1617
SCN3A	LKLVSLR-HYYFTIGWNIFDFVVVILSIVG>M<FLAEMIE----------------------K	1612
SCN4A	LKMLALR-QYYFTVGWNIFDFVVVILSIVG>L<ALSDLIQ----------------------K	1439
SCN7A	LKLIAFR-CFYFTIAWNIFDFMVVIFSITG>L<CLPMTVG----------------------S	1337
SCN8A	LKMFALR-HYYFTIGWNIFDFVVVILSIVG>M<FLADIIE----------------------K	1608
SCN9A	LKLISLR-HYYFTVGWNIFDFVVVIISIVG>M<FLADLIE----------------------T	1590
SCN10A	MKMFALR-QYYFTNGWNVFDFIVVVLSIAS>L<IFSAILKS--------------------LQ	1564
SCN11A	IKIFALR-QYYFTNGWNLFDCVVVLLSIVS>T<MISTLENQ--------------------EH	1454
CACNA1A	LKVMAFGILNYFRDAWNIFDFVTVLGSITD>I<LVTEFGNN----------------------	1653
CACNA1B	LKIIAFGVLNYFRDAWNVFDFVTVLGSITD>I<LVTEIAET---------------------N	1560
CACNA1C	LKLIAFKPKHYFCDAWNTFDALIVVGSIVD>I<AITEVNPAE----HTQ----CSPSMNAEEN	1320
CACNA1D	LKVIAFKPKGYFSDAWNTFDSLIVIGSIID>V<ALSEADPTE----SENVPVPTATPGNSEES	1330
CACNA1E	LKVIAFGFLNYFRDTWNIFDFITVIGSITE>I<ILTDSKLV--------------------NT	1567
CACNA1F	LKIIAFKPKHYFTDAWNTFDALIVVGSIVD>I<AVTEVNNGG----HLG----E----SSEDS	1287
CACNA1G	FKLVAFGFRRFFQDRWNQLDLAIVLLSIMG>I<TLEEIEVN--------------------AS	1700
CACNA1H	LKLVAFGFRRFFKDRWNQLDLAIVLLSLMG>I<TLEEIEMS--------------------AA	1706
CACNA1I	LKLVAFGLRRFFKDRWNQLDLAIVLLSVMG>I<TLEEIEIN--------------------AA	1576
CACNA1S	LKLMAFKARGYFGDPWNVFDFLIVIGSIID>V<ILSEIDTFLASSGGLYCLGGGCGNVDPDES	1227
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1606I	c.4817C>T	Putative Benign			SIFT: Polyphen: