A1818D Summary

SCN5A A1818D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1818D is not present in gnomAD. A1818D has been functionally characterized in 0 papers. Other variants at the same resdue are A1818D .A1818G .A1818P .A1818S .A1818T .A1818V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1818D 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 0.958

A1818D has 53 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
1790 13.5 D1790G D1790N
1791 14.4
1793 11.7 M1793K
1794 9.2
1795 13.2 p.Y1795_E1796insD Y1795C Y1795H
1796 14
1797 8.9
1798 10.7
1800 12.4
1801 9.5
1802 14.6
1809 10.7
1810 13.2
1811 11.6
1812 11.5 S1812L
1813 9
1814 6.2
1815 5.3
1816 6.4
1817 4.3
1819 4.6 D1819N
1820 5.3 A1820T
1821 4.8
1822 8.7
1823 10.8 E1823K
1824 10.8
1825 7.7 L1825P
1826 6.9 R1826C R1826H
1827 4.4
1828 6.7 A1828T
1829 7.7
1830 10.5
1831 6.8
1832 10.5 Q1832E
1833 13
1834 9.9
1835 7.9
1836 13.1 I1836T
1837 13.9
1838 11.2
1840 11.8
1848 12.1
1850 13
1852 13.9
1853 9.1
1854 11.8
1855 14.9
1856 11.2
1857 7.2
1858 12.4
1860 10.2
1861 12.5
1864 13.6