No paralogue variants have been mapped to residue 1746 for SCN5A.
SCN5A | LNTGPPYCDPTLPN-S-NGSRGD---CGSP>A<VGILFFTTYIIISFLIVVNMYIAIILENFS | 1776 |
SCN1A | LNSKPPDCDPNKVN-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS | 1790 |
SCN2A | LNSGPPDCDPDKDH-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS | 1780 |
SCN3A | LNSAPPDCDPDTIH-PGSSVKGD---CGNP>S<VGIFFFVSYIIISFLVVVNMYIAVILENFS | 1775 |
SCN4A | LNSGPPDCDPNLEN-PGTSVKGD---CGNP>S<IGICFFCSYIIISFLIVVNMYIAIILENFN | 1602 |
SCN7A | FNSKWSDCDPDKIN-PGTQVRGD---CGNP>S<VGIFYFVSYILISWLIIVNMYIVVVMEFLN | 1500 |
SCN8A | LN-RPPDCSLDKEH-PGSGFKGD---CGNP>S<VGIFFFVSYIIISFLIVVNMYIAIILENFS | 1770 |
SCN9A | LNSKPPDCDPKKVH-PGSSVEGD---CGNP>S<VGIFYFVSYIIISFLVVVNMYIAVILENFS | 1753 |
SCN10A | LNTGPPYCDPNLPN-S-NGTRGD---CGSP>A<VGIIFFTTYIIISFLIMVNMYIAVILENFN | 1726 |
SCN11A | LRSKES-CN---------SSSEN---CHLP>G<IATSYFVSYIIISFLIVVNMYIAVILENFN | 1608 |
CACNA1A | LSG--KPCDKNSGIL-----T-R--ECGN->E<FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE | 1815 |
CACNA1B | LSN--QACDE---Q------A-NATECGS->D<FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE | 1713 |
CACNA1C | MPG--KKCAPESEP-SNSTEGETP--CGS->S<FAVFYFISFYMLCAFLIINLFVAVIMDNFD | 1480 |
CACNA1D | LPG--KLCDPESDY--NPGE-EYT--CGS->N<FAIVYFISFYMLCAFLIINLFVAVIMDNFD | 1488 |
CACNA1E | LGE--KGCEPDTTAPSGQNEN-E--RCGT->D<LAYVYFVSFIFFCSFLMLNLFVAVIMDNFE | 1727 |
CACNA1F | LPG--NRCDPESDF--GPGE-EFT--CGS->N<FAIAYFISFFMLCAFLIINLFVAVIMDNFD | 1445 |
CACNA1G | LRD----CDQEST-----C-------YNT->V<ISPIYFVSFVLTAQFVLVNVVIAVLMKHLE | 1855 |
CACNA1H | LRE----CSREDKH----C---LS--YLP->A<LSPVYFVTFVLVAQFVLVNVVVAVLMKHLE | 1864 |
CACNA1I | LRD----CTHDERS----C---LS--SLQ->F<VSPLYFVSFVLTAQFVLINVVVAVLMKHLD | 1734 |
CACNA1S | SYG--KLCDPESDY--APGE-EYT--CGT->N<FAYYYFISFYMLCAFLVINLFVAVIMDNFD | 1385 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1746T | c.5236G>A | Inherited Arrhythmia | LQTS | rs199473306 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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.A1746V | c.5237C>T | Putative Benign | SIFT: Polyphen: |