D1802V Summary

SCN5A D1802V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1802V is not present in gnomAD. D1802V has been functionally characterized in 0 papers. Other variants at the same resdue are D1802A .D1802E .D1802E .D1802G .D1802H .D1802N .D1802V .D1802Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1802V 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 0.975

D1802V has 44 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
1504 14.6
1505 12.6 K1505N K1505N p.K1505_Q1507del
1506 8.1 P1506S
1507 8.8 p.Q1507_P1509del
1508 10.2
1509 7.4
1510 12.3
1511 12.1
1512 14.6 R1512Q R1512W
1793 14.5 M1793K
1794 11.3
1795 9.6 p.Y1795_E1796insD Y1795C Y1795H
1796 11.5
1797 9.8
1798 5.3
1799 6.3
1800 8.4
1801 6.7
1803 4.1
1804 5.5
1805 5
1806 5.5
1807 8
1808 8.2
1809 7.5
1810 10.4
1812 13.5 S1812L
1813 10.4
1814 12.5
1816 13.3
1817 10.4
1818 14.6
1820 14 A1820T
1821 14.5
1843 14.7
1845 14.5
1847 11.1 R1847C R1847H
1848 11.5
1849 10.9 H1849R
1850 9.6
1851 13.8
1852 14.7
1853 12.7
1854 14.2