D1789Y Summary

SCN5A D1789Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1789Y is not present in gnomAD. D1789Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1789A .D1789E .D1789E .D1789G .D1789H .D1789N .D1789V .D1789Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1789Y 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 0.905

D1789Y has 55 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 14.9
1497 13.5
1500 10.9
1501 14.2 L1501V
1503 14.4
1504 11.8
1507 14.1 p.Q1507_P1509del
1634 12.9
1635 12.8
1636 13.4
1637 10.1
1638 7.1 R1638Q
1639 10.1 G1639A
1640 11.1
1641 6.8
1642 10.9
1643 11.9
1644 6.1 R1644C R1644H
1645 7.6 T1645M
1646 12.1
1647 11.2
1648 8.1
1649 11.8
1650 14.3
1651 11.6
1652 12.6
1777 14.6 V1777M
1778 11.2
1779 13.5 T1779M
1781 11.2 E1781G
1782 10.6
1783 14.1
1785 12
1786 8.7 L1786Q
1787 5.3 S1787N
1788 5.6
1790 4.4 D1790G D1790N
1791 7.3
1792 5.1 D1792N
1793 6.1 M1793K
1794 10.3
1795 11.2 p.Y1795_E1796insD Y1795C Y1795H
1796 9.1
1797 11.7
1799 14.8
1820 14.1 A1820T
1821 11.8
1822 9.1
1823 11.8 E1823K
1824 11.2
1825 10.8 L1825P
1826 13.6 R1826C R1826H
1854 14
1858 13.7
1861 14.2