SCN5A | LRSAGKIY-MIFFMLVIFLGSFYLVNLILA>V<VAMAYEEQNQATIAETEEK-EKRFQEAMEM | 440 |
SCN1A | LRAAGKTY-MIFFVLVIFLGSFYLINLILA>V<VAMAYEEQNQATLEEAEQK-EAEFQQMIEQ | 450 |
SCN2A | LRAAGKTY-MIFFVLVIFLGSFYLINLILA>V<VAMAYEEQNQATLEEAEQK-EAEFQQMLEQ | 452 |
SCN3A | LRAAGKTY-MIFFVLVIFLGSFYLVNLILA>V<VAMAYEEQNQATLEEAEQK-EAEFQQMLEQ | 451 |
SCN4A | LRAAGKTY-MIFFVVIIFLGSFYLINLILA>V<VAMAYAEQNEATLAEDKEK-EEEFQQMLEK | 474 |
SCN7A | LYASGKVY-MIFFVVVSFLFSFYMASLFLG>I<LAMAYEEEKQRVGEISKKI-EPKFQQTGKE | 421 |
SCN8A | LRAAGKTY-MIFFVLVIFVGSFYLVNLILA>V<VAMAYEEQNQATLEEAEQK-EAEFKAMLEQ | 438 |
SCN9A | LRAAGKTY-MIFFVVVIFLGSFYLINLILA>V<VAMAYEEQNQANIEEAKQK-ELEFQQMLDR | 429 |
SCN10A | LRTSGKIY-MIFFVLVIFLGSFYLVNLILA>V<VTMAYEEQNQATTDEIEAK-EKKFQEALEM | 424 |
SCN11A | LRTTGLYS-VFFFIVVIFLGSFYLINLTLA>V<VTMAYEEQNKNVAAEIEAK-EKMFQEAQQL | 427 |
CACNA1A | NDASGNTWNWLYFIPLIIIGSFFMLNLVLG>V<LSGEFAKERERVENRRAFLKLRRQQQIERE | 388 |
CACNA1B | NDAAGNTWNWLYFIPLIIIGSFFMLNLVLG>V<LSGEFAKERERVENRRAFLKLRRQQQIERE | 384 |
CACNA1C | NDAVGRDWPWIYFVTLIIIGSFFVLNLVLG>V<LSGEFSKEREKAKARGDFQKLREKQQLEED | 433 |
CACNA1D | NDAIGWEWPWVYFVSLIILGSFFVLNLVLG>V<LSGEFSKEREKAKARGDFQKLREKQQLEED | 434 |
CACNA1E | NDALGATWNWLYFIPLIIIGSFFVLNLVLG>V<LSGEFAKERERVENRRAFMKLRRQQQIERE | 379 |
CACNA1F | QDAMGYELPWVYFVSLVIFGSFFVLNLVLG>V<LSGEFSKEREKAKARGDFQKQREKQQMEED | 400 |
CACNA1G | MDAHSF-YNFIYFILLIIVGSFFMINLCLV>V<IATQFSETKQRESQLMREQRVRFLSNASTL | 423 |
CACNA1H | MDAHSF-YNFIYFILLIIVGSFFMINLCLV>V<IATQFSETKQRESQLMREQRARHLSNDSTL | 447 |
CACNA1I | MDAHSF-YNFIYFILLIIVGSFFMINLCLV>V<IATQFSETKQREHRLMLEQRQRYLS-SSTV | 425 |
CACNA1S | NDAIGNEWPWIYFVTLILLGSFFILNLVLG>V<LSGEFTKEREKAKSRGTFQKLREKQQLDED | 362 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.V411M | c.1231G>A |
Inherited Arrhythmia | LQTS | rs72549410 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS |
The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7.
10961955 |
Inherited Arrhythmia | LQTS |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17.
15840476 |
Other Cardiac Phenotype | |
High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11.
16712702 |
Inherited Arrhythmia | LQTS |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303.
19716085 |
Inherited Arrhythmia | LQTS |
A novel mechanism for LQT3 with 2:1 block: a pore-lining mutation in Nav1.5 significantly affects voltage-dependence of activation. Heart Rhythm. 2011 8(5):770-7.
21193062 |
Inherited Arrhythmia | LQTS |
Flecainide, a therapeutic option in a patient with long QT syndrome type 3 caused by the heterozygous V411M mutation in the SCN5A gene. Rev Esp Cardiol (Engl Ed). 2012 65(11):1058-9. doi: 10.1016/j.recesp.2012.03.014.
22721569 |