E1784G Summary

SCN5A E1784G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1784G is not present in gnomAD. E1784G has been functionally characterized in 0 papers. Other variants at the same resdue are E1784A .E1784D .E1784D .E1784G .E1784K .E1784Q .E1784V . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

E1784G Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.91

E1784G has 43 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
1488 11.6
1489 10.9 E1489D E1489D
1490 7.1
1491 10.5
1492 11.4
1493 5.9 K1493R p.K1493del
1494 9.5
1495 13.8
1496 11.4
1497 10.5
1498 13.2 M1498R M1498T
1500 13.5
1501 15 L1501V
1776 14
1777 12.4 V1777M
1778 11.8
1779 11.2 T1779M
1780 8.3
1781 8.3 E1781G
1782 7.9
1783 5.1
1785 4.3
1786 8.5 L1786Q
1787 11.2 S1787N
1790 12.9 D1790G D1790N
1791 14
1823 14.6 E1823K
1824 11
1825 13.6 L1825P
1858 11
1859 12.3
1860 13.7
1861 8.6
1862 6.4
1863 9.4
1864 10.8
1865 6
1866 7.9
1867 11.4
1868 8
1869 12.6
1870 14.8 A1870T
1874 14.5