Paralogue Annotation for SCN5A residue 1729

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1729
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1729

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1742G	Generalized epilepsy with febrile seizures plus	High	8	15694566
SCN1A	D1742V	Dravet syndrome, late-onset	High	8	27236449

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	NSMLCLFQITTSAGWDGLLSPILNTGPPYC>D<PTLPN-S-NGSRGD---CGSPAVGILFFTT	1754
SCN1A	NSMICLFQITTSAGWDGLLAPILNSKPPDC>D<PNKVN-PGSSVKGD---CGNPSVGIFFFVS	1768
SCN2A	NSMICLFQITTSAGWDGLLAPILNSGPPDC>D<PDKDH-PGSSVKGD---CGNPSVGIFFFVS	1758
SCN3A	NSMICLFQITTSAGWDGLLAPILNSAPPDC>D<PDTIH-PGSSVKGD---CGNPSVGIFFFVS	1753
SCN4A	NSIICLFEITTSAGWDGLLNPILNSGPPDC>D<PNLEN-PGTSVKGD---CGNPSIGICFFCS	1580
SCN7A	NSMLCLFQVAIFAGWDGMLDAIFNSKWSDC>D<PDKIN-PGTQVRGD---CGNPSVGIFYFVS	1478
SCN8A	NSMICLFQITTSAGWDGLLLPILN-RPPDC>S<LDKEH-PGSGFKGD---CGNPSVGIFFFVS	1748
SCN9A	NSMICLFQITTSAGWDGLLAPILNSKPPDC>D<PKKVH-PGSSVEGD---CGNPSVGIFYFVS	1731
SCN10A	NSMLCLFQITTSAGWDGLLSPILNTGPPYC>D<PNLPN-S-NGTRGD---CGSPAVGIIFFTT	1704
SCN11A	SSMLCLFQISTSAGWDSLLSPMLRSKES-C>N<---------SSSEN---CHLPGIATSYFVS	1586
CACNA1A	QALMLLFRSATGEAWHNIMLSCLSG--KPC>D<KNSGIL-----T-R--ECGN-EFAYFYFVS	1793
CACNA1B	QALMLLFRSATGEAWHEIMLSCLSN--QAC>D<E---Q------A-NATECGS-DFAYFYFVS	1691
CACNA1C	QAVLLLFRCATGEAWQDIMLACMPG--KKC>A<PESEP-SNSTEGETP--CGS-SFAVFYFIS	1458
CACNA1D	QAVLLLFRCATGEAWQEIMLACLPG--KLC>D<PESDY--NPGE-EYT--CGS-NFAIVYFIS	1466
CACNA1E	GSLMLLFRSATGEAWQEIMLSCLGE--KGC>E<PDTTAPSGQNEN-E--RCGT-DLAYVYFVS	1705
CACNA1F	QAVLLLFRCATGEAWQEIMLASLPG--NRC>D<PESDF--GPGE-EFT--CGS-NFAIAYFIS	1423
CACNA1G	MAFLTLFRVSTGDNWNGIMKDTLRD----C>D<QEST-----C-------YNT-VISPIYFVS	1833
CACNA1H	MAFLTLFRVSTGDNWNGIMKDTLRE----C>S<REDKH----C---LS--YLP-ALSPVYFVT	1842
CACNA1I	MAFLTLFQVSTGDNWNGIMKDTLRD----C>T<HDERS----C---LS--SLQ-FVSPLYFVS	1712
CACNA1S	QAVLLLFRCATGEAWQEILLACSYG--KLC>D<PESDY--APGE-EYT--CGT-NFAYYYFIS	1363
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1729N	c.5185G>A	Putative Benign			SIFT: Polyphen: