No paralogue variants have been mapped to residue 1792 for SCN5A.
| SCN5A | IVVNMYIAIILENFSVATEESTEPLSEDDF>D<MFYEIWEKFDPEATQFIEYSVLSDFADALS | 1822 |
| SCN1A | VVVNMYIAVILENFSVATEESAEPLSEDDF>E<MFYEVWEKFDPDATQFMEFEKLSQFAAALE | 1836 |
| SCN2A | VVVNMYIAVILENFSVATEESAEPLSEDDF>E<MFYEVWEKFDPDATQFIEFAKLSDFADALD | 1826 |
| SCN3A | VVVNMYIAVILENFSVATEESAEPLSEDDF>E<MFYEVWEKFDPDATQFIEFSKLSDFAAALD | 1821 |
| SCN4A | IVVNMYIAIILENFNVATEESSEPLGEDDF>E<MFYETWEKFDPDATQFIAYSRLSDFVDTLQ | 1648 |
| SCN7A | IIVNMYIVVVMEFLNIASKKKNKTLSEDDF>R<KFFQVWKRFDPDRTQYIDSSKLSDFAAALD | 1546 |
| SCN8A | IVVNMYIAIILENFSVATEESADPLSEDDF>E<TFYEIWEKFDPDATQFIEYCKLADFADALE | 1816 |
| SCN9A | VVVNMYIAVILENFSVATEESTEPLSEDDF>E<MFYEVWEKFDPDATQFIEFSKLSDFAAALD | 1799 |
| SCN10A | IMVNMYIAVILENFNVATEESTEPLSEDDF>D<MFYETWEKFDPEATQFITFSALSDFADTLS | 1772 |
| SCN11A | IVVNMYIAVILENFNTATEESEDPLGEDDF>D<IFYEVWEKFDPEATQFIKYSALSDFADALP | 1654 |
| CACNA1A | LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL>D<EYVRVWAEYDPAACGRIHYKDMYSLLRVIS | 1860 |
| CACNA1B | LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL>D<EFIRVWAEYDPAACGRISYNDMFEMLKHMS | 1758 |
| CACNA1C | LIINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKRIWAEYDPEAKGRIKHLDVVTLLRRIQ | 1525 |
| CACNA1D | LIINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKRIWSEYDPEAKGRIKHLDVVTLLRRIQ | 1533 |
| CACNA1E | LMLNLFVAVIMDNFEYLTRDSSI-LGPHHL>D<EFVRVWAEYDRAACGRIHYTEMYEMLTLMS | 1772 |
| CACNA1F | LIINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKRIWSEYDPGAKGRIKHLDVVALLRRIQ | 1490 |
| CACNA1G | VLVNVVIAVLMKHLEESNKEAKE---EAEL>E<AELELEMKT-LSPQPHSPLGSPF-LWPGVE | 1896 |
| CACNA1H | VLVNVVVAVLMKHLEESNKEARE---DAEL>D<AEIELEMAQGPGSARRVDADRP-------- | 1899 |
| CACNA1I | VLINVVVAVLMKHLDDSNKEAQE---DAEM>D<AELELEMAHGLGPGPRLPTGSPGAPGR--- | 1774 |
| CACNA1S | LVINLFVAVIMDNFDYLTRDWSI-LGPHHL>D<EFKAIWAEYDPEAKGRIKHLDVVTLLRRIQ | 1430 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1792N | c.5374G>A | Other Cardiac Phenotype | SIFT: deleterious Polyphen: probably damaging | ||
| Reports | Other Cardiac Phenotype | [Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. Arch Pediatr. 2012 19(8):837-41. 22795782 | |||
| p.D1792V | c.5375A>T | Putative Benign | SIFT: Polyphen: | ||