A1856T Summary

SCN5A A1856T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1856T is not present in gnomAD. A1856T has been functionally characterized in 0 papers. Other variants at the same resdue are A1856D .A1856G .A1856P .A1856S .A1856T .A1856V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1856T 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 0.965

A1856T has 61 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
1494 12.5
1497 12.1
1498 11 M1498R M1498T
1500 14.1
1501 9.4 L1501V
1502 13.5 G1502A G1502S
1504 14.9
1785 14.5
1786 12.3 L1786Q
1790 14.2 D1790G D1790N
1791 12.3
1794 10.9
1795 13.9 p.Y1795_E1796insD Y1795C Y1795H
1798 13.8
1809 13.6
1811 14.1
1814 11.3
1815 14
1817 11.8
1818 11.2
1821 12.2
1822 14.5
1824 12
1825 9.2 L1825P
1826 14.3 R1826C R1826H
1827 10.3
1828 14.8 A1828T
1831 13.2
1832 14.3 Q1832E
1833 14.5
1834 10.3
1835 9.1
1836 11.8 I1836T
1837 10.1
1838 5.4
1839 6.5
1840 6.9
1841 10
1842 13.8 M1842L M1842L
1848 10.8
1849 11.6 H1849R
1850 10.5
1851 9.8
1852 7.1
1853 5.9
1854 6.6
1855 4.3
1857 4.2
1858 5.6
1859 5.3
1860 7
1861 8.7
1862 9.7
1863 10.6
1864 11.5
1865 14
1866 14.1
1874 14.5
1876 13.1
1877 12.1
1880 11.7 M1880V