Paralogue Annotation for SCN5A residue 1738

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1738
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1738

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	V1564I	Seizures	Low	3	24356988

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	SAGWDGLLSPILNTGPPYCDPTLPN-S-NG>S<RGD---CGSPAVGILFFTTYIIISFLIVVN	1765
SCN1A	SAGWDGLLAPILNSKPPDCDPNKVN-PGSS>V<KGD---CGNPSVGIFFFVSYIIISFLVVVN	1779
SCN2A	SAGWDGLLAPILNSGPPDCDPDKDH-PGSS>V<KGD---CGNPSVGIFFFVSYIIISFLVVVN	1769
SCN3A	SAGWDGLLAPILNSAPPDCDPDTIH-PGSS>V<KGD---CGNPSVGIFFFVSYIIISFLVVVN	1764
SCN4A	SAGWDGLLNPILNSGPPDCDPNLEN-PGTS>V<KGD---CGNPSIGICFFCSYIIISFLIVVN	1591
SCN7A	FAGWDGMLDAIFNSKWSDCDPDKIN-PGTQ>V<RGD---CGNPSVGIFYFVSYILISWLIIVN	1489
SCN8A	SAGWDGLLLPILN-RPPDCSLDKEH-PGSG>F<KGD---CGNPSVGIFFFVSYIIISFLIVVN	1759
SCN9A	SAGWDGLLAPILNSKPPDCDPKKVH-PGSS>V<EGD---CGNPSVGIFYFVSYIIISFLVVVN	1742
SCN10A	SAGWDGLLSPILNTGPPYCDPNLPN-S-NG>T<RGD---CGSPAVGIIFFTTYIIISFLIMVN	1715
SCN11A	SAGWDSLLSPMLRSKES-CN---------S>S<SEN---CHLPGIATSYFVSYIIISFLIVVN	1597
CACNA1A	GEAWHNIMLSCLSG--KPCDKNSGIL---->-<T-R--ECGN-EFAYFYFVSFIFLCSFLMLN	1804
CACNA1B	GEAWHEIMLSCLSN--QACDE---Q----->-<A-NATECGS-DFAYFYFVSFIFLCSFLMLN	1702
CACNA1C	GEAWQDIMLACMPG--KKCAPESEP-SNST>E<GETP--CGS-SFAVFYFISFYMLCAFLIIN	1469
CACNA1D	GEAWQEIMLACLPG--KLCDPESDY--NPG>E<-EYT--CGS-NFAIVYFISFYMLCAFLIIN	1477
CACNA1E	GEAWQEIMLSCLGE--KGCEPDTTAPSGQN>E<N-E--RCGT-DLAYVYFVSFIFFCSFLMLN	1716
CACNA1F	GEAWQEIMLASLPG--NRCDPESDF--GPG>E<-EFT--CGS-NFAIAYFISFFMLCAFLIIN	1434
CACNA1G	GDNWNGIMKDTLRD----CDQEST-----C>-<------YNT-VISPIYFVSFVLTAQFVLVN	1844
CACNA1H	GDNWNGIMKDTLRE----CSREDKH----C>-<--LS--YLP-ALSPVYFVTFVLVAQFVLVN	1853
CACNA1I	GDNWNGIMKDTLRD----CTHDERS----C>-<--LS--SLQ-FVSPLYFVSFVLTAQFVLIN	1723
CACNA1S	GEAWQEILLACSYG--KLCDPESDY--APG>E<-EYT--CGT-NFAYYYFISFYMLCAFLVIN	1374
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1738T	c.5212T>A	Putative Benign			SIFT: Polyphen:
p.Ser1738Phe	c.5213C>T	Unknown			SIFT: Polyphen: