D1852G Summary

SCN5A D1852G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1852G is not present in gnomAD. D1852G has been functionally characterized in 0 papers. Other variants at the same resdue are D1852A .D1852E .D1852E .D1852G .D1852H .D1852N .D1852V .D1852Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1852G 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 0.989

D1852G has 52 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
1497 14.8
1498 12.6 M1498R M1498T
1501 9.9 L1501V
1502 11.6 G1502A G1502S
1503 14.1
1504 13.5
1505 14.3 K1505N K1505N p.K1505_Q1507del
1506 13.8 P1506S
1791 14.1
1794 11.5
1795 12.5 p.Y1795_E1796insD Y1795C Y1795H
1798 11.3
1802 14.7
1806 13.4
1807 10.2
1808 9.3
1809 10.1
1810 14.3
1811 12.4
1813 14.6
1814 11.1
1817 12.4
1818 13.9
1825 13.9 L1825P
1834 14.9
1835 12
1836 13.9 I1836T
1837 14.2
1838 9.9
1839 6.9
1840 6
1841 5.6
1842 9.5 M1842L M1842L
1843 10.2
1844 14.4
1845 14.5
1846 13.4
1847 11.4 R1847C R1847H
1848 6.2
1849 5.1 H1849R
1850 6.1
1851 5.3
1853 5
1854 6.9
1855 6.8
1856 7.1
1857 9
1858 10.9
1859 11.4
1860 13.8
1876 14.6
1880 11.7 M1880V