A1820D Summary

SCN5A A1820D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1820D is not present in gnomAD. A1820D has been functionally characterized in 0 papers. Other variants at the same resdue are A1820D .A1820G .A1820P .A1820S .A1820T .A1820V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1820D 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 0.852

A1820D has 43 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
1638 14.3 R1638Q
1789 14.1
1790 12.4 D1790G D1790N
1791 14.3
1792 13.8 D1792N
1793 8.6 M1793K
1794 9.2
1795 12.6 p.Y1795_E1796insD Y1795C Y1795H
1796 10.6
1797 5.9
1798 10.7
1799 12.4
1800 8.8
1801 8.1
1802 14
1809 12.8
1812 14 S1812L
1813 10.6
1814 10.2
1815 8.7
1816 7
1817 5.6
1818 5.3
1819 4.4 D1819N
1821 3.9
1822 6.7
1823 9.9 E1823K
1824 11.5
1825 9 L1825P
1826 6.5 R1826C R1826H
1827 8.4
1828 8.8 A1828T
1829 9.3
1830 13.3
1831 11.1
1834 14.9
1835 13.2
1850 14.9
1853 12.6
1854 14
1857 11.2
1860 14.2
1861 14.9