No paralogue variants have been mapped to residue 1761 for SCN5A.
| SCN5A | S-NGSRGD---CGSPAVGILFFTTYIIISF>L<IVVNMYIAIILENFSVATEESTEPLSEDDF | 1791 |
| SCN1A | PGSSVKGD---CGNPSVGIFFFVSYIIISF>L<VVVNMYIAVILENFSVATEESAEPLSEDDF | 1805 |
| SCN2A | PGSSVKGD---CGNPSVGIFFFVSYIIISF>L<VVVNMYIAVILENFSVATEESAEPLSEDDF | 1795 |
| SCN3A | PGSSVKGD---CGNPSVGIFFFVSYIIISF>L<VVVNMYIAVILENFSVATEESAEPLSEDDF | 1790 |
| SCN4A | PGTSVKGD---CGNPSIGICFFCSYIIISF>L<IVVNMYIAIILENFNVATEESSEPLGEDDF | 1617 |
| SCN7A | PGTQVRGD---CGNPSVGIFYFVSYILISW>L<IIVNMYIVVVMEFLNIASKKKNKTLSEDDF | 1515 |
| SCN8A | PGSGFKGD---CGNPSVGIFFFVSYIIISF>L<IVVNMYIAIILENFSVATEESADPLSEDDF | 1785 |
| SCN9A | PGSSVEGD---CGNPSVGIFYFVSYIIISF>L<VVVNMYIAVILENFSVATEESTEPLSEDDF | 1768 |
| SCN10A | S-NGTRGD---CGSPAVGIIFFTTYIIISF>L<IMVNMYIAVILENFNVATEESTEPLSEDDF | 1741 |
| SCN11A | ---SSSEN---CHLPGIATSYFVSYIIISF>L<IVVNMYIAVILENFNTATEESEDPLGEDDF | 1623 |
| CACNA1A | -----T-R--ECGN-EFAYFYFVSFIFLCS>F<LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL | 1829 |
| CACNA1B | -----A-NATECGS-DFAYFYFVSFIFLCS>F<LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL | 1727 |
| CACNA1C | SNSTEGETP--CGS-SFAVFYFISFYMLCA>F<LIINLFVAVIMDNFDYLTRDWSI-LGPHHL | 1494 |
| CACNA1D | -NPGE-EYT--CGS-NFAIVYFISFYMLCA>F<LIINLFVAVIMDNFDYLTRDWSI-LGPHHL | 1502 |
| CACNA1E | SGQNEN-E--RCGT-DLAYVYFVSFIFFCS>F<LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL | 1741 |
| CACNA1F | -GPGE-EFT--CGS-NFAIAYFISFFMLCA>F<LIINLFVAVIMDNFDYLTRDWSI-LGPHHL | 1459 |
| CACNA1G | ---C-------YNT-VISPIYFVSFVLTAQ>F<VLVNVVIAVLMKHLEESNKEAKE---EAEL | 1867 |
| CACNA1H | ---C---LS--YLP-ALSPVYFVTFVLVAQ>F<VLVNVVVAVLMKHLEESNKEARE---DAEL | 1876 |
| CACNA1I | ---C---LS--SLQ-FVSPLYFVSFVLTAQ>F<VLINVVVAVLMKHLDDSNKEAQE---DAEM | 1746 |
| CACNA1S | -APGE-EYT--CGT-NFAYYYFISFYMLCA>F<LVINLFVAVIMDNFDYLTRDWSI-LGPHHL | 1399 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1761F | c.5281C>T | Inherited Arrhythmia | LQTS | rs199473307 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| p.L1761H | c.5282T>A | Inherited Arrhythmia | LQTS | rs199473308 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||