D1839A Summary

SCN5A D1839A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1839A is not present in gnomAD. D1839A has been functionally characterized in 0 papers. Other variants at the same resdue are D1839A .D1839E .D1839E .D1839G .D1839H .D1839N .D1839V .D1839Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1839A 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 0.982

D1839A has 41 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
1498 14.4 M1498R M1498T
1501 13.7 L1501V
1809 14.5
1811 12.8
1814 12.7
1827 14.5
1832 14 Q1832E
1833 14
1834 11.5
1835 9.9
1836 9.5 I1836T
1837 8.8
1838 5.8
1840 4.8
1841 5.9
1842 10.2 M1842L M1842L
1843 13.3
1846 14.9
1848 10.1
1849 11.8 H1849R
1850 12.8
1851 11.7
1852 6.9
1853 9
1854 11.4
1855 7.4
1856 6.5
1857 9.8
1858 11.8
1859 8.9
1860 11.5
1861 14.6
1862 14.7
1863 14.6
1876 13.2
1877 10.9
1879 15
1880 8.9 M1880V
1881 12.3
1883 14.6
1884 13.5 P1884L