D1792E Summary

SCN5A D1792E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1792E is not present in gnomAD. D1792E has been functionally characterized in 0 papers. Other variants at the same resdue are D1792A .D1792E .D1792E .D1792G .D1792H .D1792N .D1792V .D1792Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1792E 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 0.535

D1792E has 56 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
1496 15
1497 13.1
1500 9.7
1501 11.9 L1501V
1502 13.3 G1502A G1502S
1503 10.8
1504 7.6
1505 11.7 K1505N K1505N p.K1505_Q1507del
1506 11 P1506S
1507 9.2 p.Q1507_P1509del
1508 14.4
1509 14.9
1634 14.5
1635 12.8
1637 13.3
1638 9.4 R1638Q
1639 14.3 G1639A
1641 11.8
1644 9.8 R1644C R1644H
1645 12 T1645M
1647 14.2
1648 10
1649 14.2
1651 12.4
1652 13.6
1778 14.4
1781 13.7 E1781G
1782 14.7
1785 14.5
1786 10.4 L1786Q
1787 8.1 S1787N
1788 5.3
1789 5.1
1790 6.6 D1790G D1790N
1791 5.8
1793 5.8 M1793K
1794 7.6
1795 6.7 p.Y1795_E1796insD Y1795C Y1795H
1796 6.2
1797 9.6
1798 11.6
1799 10.9
1800 12.7
1817 13.7
1820 13.8 A1820T
1821 11.6
1822 10.8
1823 14.7 E1823K
1824 13.5
1825 11.4 L1825P
1850 13.2
1851 14.5
1853 14.7
1854 11.4
1857 14.8
1858 13.5