Paralogue Annotation for SCN5A residue 1744

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1744
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1744

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1S	T1354S	Malignant hyperthermia	Medium	5	20861472, 24055113, 24195946, 20861472, 24784157, 25637381, 25735680, 27153395, 26332594

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	PILNTGPPYCDPTLPN-S-NGSRGD---CG>S<PAVGILFFTTYIIISFLIVVNMYIAIILEN	1774
SCN1A	PILNSKPPDCDPNKVN-PGSSVKGD---CG>N<PSVGIFFFVSYIIISFLVVVNMYIAVILEN	1788
SCN2A	PILNSGPPDCDPDKDH-PGSSVKGD---CG>N<PSVGIFFFVSYIIISFLVVVNMYIAVILEN	1778
SCN3A	PILNSAPPDCDPDTIH-PGSSVKGD---CG>N<PSVGIFFFVSYIIISFLVVVNMYIAVILEN	1773
SCN4A	PILNSGPPDCDPNLEN-PGTSVKGD---CG>N<PSIGICFFCSYIIISFLIVVNMYIAIILEN	1600
SCN7A	AIFNSKWSDCDPDKIN-PGTQVRGD---CG>N<PSVGIFYFVSYILISWLIIVNMYIVVVMEF	1498
SCN8A	PILN-RPPDCSLDKEH-PGSGFKGD---CG>N<PSVGIFFFVSYIIISFLIVVNMYIAIILEN	1768
SCN9A	PILNSKPPDCDPKKVH-PGSSVEGD---CG>N<PSVGIFYFVSYIIISFLVVVNMYIAVILEN	1751
SCN10A	PILNTGPPYCDPNLPN-S-NGTRGD---CG>S<PAVGIIFFTTYIIISFLIMVNMYIAVILEN	1724
SCN11A	PMLRSKES-CN---------SSSEN---CH>L<PGIATSYFVSYIIISFLIVVNMYIAVILEN	1606
CACNA1A	SCLSG--KPCDKNSGIL-----T-R--ECG>N<-EFAYFYFVSFIFLCSFLMLNLFVAVIMDN	1813
CACNA1B	SCLSN--QACDE---Q------A-NATECG>S<-DFAYFYFVSFIFLCSFLMLNLFVAVIMDN	1711
CACNA1C	ACMPG--KKCAPESEP-SNSTEGETP--CG>S<-SFAVFYFISFYMLCAFLIINLFVAVIMDN	1478
CACNA1D	ACLPG--KLCDPESDY--NPGE-EYT--CG>S<-NFAIVYFISFYMLCAFLIINLFVAVIMDN	1486
CACNA1E	SCLGE--KGCEPDTTAPSGQNEN-E--RCG>T<-DLAYVYFVSFIFFCSFLMLNLFVAVIMDN	1725
CACNA1F	ASLPG--NRCDPESDF--GPGE-EFT--CG>S<-NFAIAYFISFFMLCAFLIINLFVAVIMDN	1443
CACNA1G	DTLRD----CDQEST-----C-------YN>T<-VISPIYFVSFVLTAQFVLVNVVIAVLMKH	1853
CACNA1H	DTLRE----CSREDKH----C---LS--YL>P<-ALSPVYFVTFVLVAQFVLVNVVVAVLMKH	1862
CACNA1I	DTLRD----CTHDERS----C---LS--SL>Q<-FVSPLYFVSFVLTAQFVLINVVVAVLMKH	1732
CACNA1S	ACSYG--KLCDPESDY--APGE-EYT--CG>T<-NFAYYYFISFYMLCAFLVINLFVAVIMDN	1383
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ser1744Ile	c.5231G>T	Unknown			SIFT: Polyphen: