Paralogue Annotation for SCN5A residue 1746

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1746
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1746

No paralogue variants have been mapped to residue 1746 for SCN5A.



SCN5ALNTGPPYCDPTLPN-S-NGSRGD---CGSP>A<VGILFFTTYIIISFLIVVNMYIAIILENFS1776
SCN1ALNSKPPDCDPNKVN-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS1790
SCN2ALNSGPPDCDPDKDH-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS1780
SCN3ALNSAPPDCDPDTIH-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS1775
SCN4ALNSGPPDCDPNLEN-PGTSVKGD---CGNP>S<IGICFFCSYIIISFLIVVNMYIAIILENFN1602
SCN7AFNSKWSDCDPDKIN-PGTQVRGD---CGNP>S<VGIFYFVSYILISWLIIVNMYIVVVMEFLN1500
SCN8ALN-RPPDCSLDKEH-PGSGFKGD---CGNP>S<VGIFFFVSYIIISFLIVVNMYIAIILENFS1770
SCN9ALNSKPPDCDPKKVH-PGSSVEGD---CGNP>S<VGIFYFVSYIIISFLVVVNMYIAVILENFS1753
SCN10ALNTGPPYCDPNLPN-S-NGTRGD---CGSP>A<VGIIFFTTYIIISFLIMVNMYIAVILENFN1726
SCN11ALRSKES-CN---------SSSEN---CHLP>G<IATSYFVSYIIISFLIVVNMYIAVILENFN1608
CACNA1ALSG--KPCDKNSGIL-----T-R--ECGN->E<FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE1815
CACNA1BLSN--QACDE---Q------A-NATECGS->D<FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE1713
CACNA1CMPG--KKCAPESEP-SNSTEGETP--CGS->S<FAVFYFISFYMLCAFLIINLFVAVIMDNFD1480
CACNA1DLPG--KLCDPESDY--NPGE-EYT--CGS->N<FAIVYFISFYMLCAFLIINLFVAVIMDNFD1488
CACNA1ELGE--KGCEPDTTAPSGQNEN-E--RCGT->D<LAYVYFVSFIFFCSFLMLNLFVAVIMDNFE1727
CACNA1FLPG--NRCDPESDF--GPGE-EFT--CGS->N<FAIAYFISFFMLCAFLIINLFVAVIMDNFD1445
CACNA1GLRD----CDQEST-----C-------YNT->V<ISPIYFVSFVLTAQFVLVNVVIAVLMKHLE1855
CACNA1HLRE----CSREDKH----C---LS--YLP->A<LSPVYFVTFVLVAQFVLVNVVVAVLMKHLE1864
CACNA1ILRD----CTHDERS----C---LS--SLQ->F<VSPLYFVSFVLTAQFVLINVVVAVLMKHLD1734
CACNA1SSYG--KLCDPESDY--APGE-EYT--CGT->N<FAYYYFISFYMLCAFLVINLFVAVIMDNFD1385
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1746Tc.5236G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041
p.A1746Vc.5237C>T Putative BenignSIFT:
Polyphen: