Paralogue Annotation for SCN5A residue 1585

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1585
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1585

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1H	R1675Q	Epilepsy with auditory features	Medium	9	27066544

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	KINILAKINLLFVAIFTGECIVKLAALR-H>Y<YFTNSWNIFDFVVVILSIVGTVLSDIIQ--	1613
SCN1A	VTTILSRINLVFIVLFTGECVLKLISLR-H>Y<YFTIGWNIFDFVVVILSIVGMFLAELIE--	1626
SCN2A	MTNILYWINLVFIVLFTGECVLKLISLR-Y>Y<YFTIGWNIFDFVVVILSIVGMFLAELIE--	1616
SCN3A	MTLVLSRINLVFIVLFTGEFVLKLVSLR-H>Y<YFTIGWNIFDFVVVILSIVGMFLAEMIE--	1611
SCN4A	KVDILYNINMIFIIIFTGECVLKMLALR-Q>Y<YFTVGWNIFDFVVVILSIVGLALSDLIQ--	1438
SCN7A	MSIALYWINSIFVMLYTMECILKLIAFR-C>F<YFTIAWNIFDFMVVIFSITGLCLPMTVG--	1336
SCN8A	MENILYWINLVFVIFFTCECVLKMFALR-H>Y<YFTIGWNIFDFVVVILSIVGMFLADIIE--	1607
SCN9A	MTEVLYWINVVFIILFTGECVLKLISLR-H>Y<YFTVGWNIFDFVVVIISIVGMFLADLIE--	1589
SCN10A	KTKILGKINQFFVAVFTGECVMKMFALR-Q>Y<YFTNGWNVFDFIVVVLSIASLIFSAILKS-	1562
SCN11A	MKSILDHLNWVFVVIFTLECLIKIFALR-Q>Y<YFTNGWNLFDCVVVLLSIVSTMISTLENQ-	1452
CACNA1A	YENALRVFNIVFTSLFSLECVLKVMAFGIL>N<YFRDAWNIFDFVTVLGSITDILVTEFGNN-	1653
CACNA1B	YELMLKCLNIVFTSMFSMECVLKIIAFGVL>N<YFRDAWNVFDFVTVLGSITDILVTEIAET-	1559
CACNA1C	FKIAMNILNMLFTGLFTVEMILKLIAFKPK>H<YFCDAWNTFDALIVVGSIVDIAITEVNPAE	1307
CACNA1D	FNDAMDILNMVFTGVFTVEMVLKVIAFKPK>G<YFSDAWNTFDSLIVIGSIIDVALSEADPTE	1313
CACNA1E	YELALKYLNIAFTMVFSLECVLKVIAFGFL>N<YFRDTWNIFDFITVIGSITEIILTDSKLV-	1565
CACNA1F	FNYAMDILNMVFTGLFTIEMVLKIIAFKPK>H<YFTDAWNTFDALIVVGSIVDIAVTEVNNGG	1278
CACNA1G	LDEALKICNYIFTVIFVLESVFKLVAFGFR>R<FFQDRWNQLDLAIVLLSIMGITLEEIEVN-	1698
CACNA1H	LDEALKYCNYVFTIVFVFEAALKLVAFGFR>R<FFKDRWNQLDLAIVLLSLMGITLEEIEMS-	1704
CACNA1I	LETALKYCNYMFTTVFVLEAVLKLVAFGLR>R<FFKDRWNQLDLAIVLLSVMGITLEEIEIN-	1574
CACNA1S	MNHISDILNVAFTIIFTLEMILKLMAFKAR>G<YFGDPWNVFDFLIVIGSIIDVILSEIDTFL	1206
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1585C	c.4754A>G	Putative Benign			SIFT: Polyphen: