No paralogue variants have been mapped to residue 1777 for SCN5A.
| SCN5A | VGILFFTTYIIISFLIVVNMYIAIILENFS>V<ATEESTEPLSEDDFDMFYEIWEKFDPEATQ | 1807 |
| SCN1A | VGIFFFVSYIIISFLVVVNMYIAVILENFS>V<ATEESAEPLSEDDFEMFYEVWEKFDPDATQ | 1821 |
| SCN2A | VGIFFFVSYIIISFLVVVNMYIAVILENFS>V<ATEESAEPLSEDDFEMFYEVWEKFDPDATQ | 1811 |
| SCN3A | VGIFFFVSYIIISFLVVVNMYIAVILENFS>V<ATEESAEPLSEDDFEMFYEVWEKFDPDATQ | 1806 |
| SCN4A | IGICFFCSYIIISFLIVVNMYIAIILENFN>V<ATEESSEPLGEDDFEMFYETWEKFDPDATQ | 1633 |
| SCN7A | VGIFYFVSYILISWLIIVNMYIVVVMEFLN>I<ASKKKNKTLSEDDFRKFFQVWKRFDPDRTQ | 1531 |
| SCN8A | VGIFFFVSYIIISFLIVVNMYIAIILENFS>V<ATEESADPLSEDDFETFYEIWEKFDPDATQ | 1801 |
| SCN9A | VGIFYFVSYIIISFLVVVNMYIAVILENFS>V<ATEESTEPLSEDDFEMFYEVWEKFDPDATQ | 1784 |
| SCN10A | VGIIFFTTYIIISFLIMVNMYIAVILENFN>V<ATEESTEPLSEDDFDMFYETWEKFDPEATQ | 1757 |
| SCN11A | IATSYFVSYIIISFLIVVNMYIAVILENFN>T<ATEESEDPLGEDDFDIFYEVWEKFDPEATQ | 1639 |
| CACNA1A | FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE>Y<LTRDSSI-LGPHHLDEYVRVWAEYDPAACG | 1845 |
| CACNA1B | FAYFYFVSFIFLCSFLMLNLFVAVIMDNFE>Y<LTRDSSI-LGPHHLDEFIRVWAEYDPAACG | 1743 |
| CACNA1C | FAVFYFISFYMLCAFLIINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKRIWAEYDPEAKG | 1510 |
| CACNA1D | FAIVYFISFYMLCAFLIINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKRIWSEYDPEAKG | 1518 |
| CACNA1E | LAYVYFVSFIFFCSFLMLNLFVAVIMDNFE>Y<LTRDSSI-LGPHHLDEFVRVWAEYDRAACG | 1757 |
| CACNA1F | FAIAYFISFFMLCAFLIINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKRIWSEYDPGAKG | 1475 |
| CACNA1G | ISPIYFVSFVLTAQFVLVNVVIAVLMKHLE>E<SNKEAKE---EAELEAELELEMKT-LSPQP | 1882 |
| CACNA1H | LSPVYFVTFVLVAQFVLVNVVVAVLMKHLE>E<SNKEARE---DAELDAEIELEMAQGPGSAR | 1892 |
| CACNA1I | VSPLYFVSFVLTAQFVLINVVVAVLMKHLD>D<SNKEAQE---DAEMDAELELEMAHGLGPGP | 1762 |
| CACNA1S | FAYYYFISFYMLCAFLVINLFVAVIMDNFD>Y<LTRDWSI-LGPHHLDEFKAIWAEYDPEAKG | 1415 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V1777M | c.5329G>A | Inherited Arrhythmia | LQTS | rs199473314 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res. 2001 89(2):E16-21. 11463728 | ||
| 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 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | [Homozygotous mutation of the SCN5A gene responsible for congenital long QT syndrome with 2/1 atrioventricular block]. Arch Mal Coeur Vaiss. 2002 95(5):440-6. 12085742 | |||