C1850W Summary

SCN5A C1850W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1850W is not present in gnomAD. C1850W has been functionally characterized in 0 papers. Other variants at the same resdue are C1850F .C1850G .C1850R .C1850S .C1850S .C1850W .C1850Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1850W 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 0.919

C1850W 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
1497 14.7
1498 13.8 M1498R M1498T
1500 13.6
1501 9.3 L1501V
1502 10.2 G1502A G1502S
1503 11.2
1504 9.2
1505 9.3 K1505N K1505N p.K1505_Q1507del
1506 7.9 P1506S
1507 11.3 p.Q1507_P1509del
1508 14.6
1509 14.9
1790 14.9 D1790G D1790N
1791 11.3
1792 13.2 D1792N
1793 14 M1793K
1794 7.7
1795 7 p.Y1795_E1796insD Y1795C Y1795H
1796 13.5
1797 11.7
1798 6.1
1799 12.1
1800 14.3
1801 11.8
1802 9.6
1803 13.7
1804 13.8
1805 10.2
1806 9
1807 5.7
1808 7
1809 8.1
1810 13.3
1811 14
1813 13.1
1814 11.1
1817 10
1818 13
1820 14.9 A1820T
1821 12.9
1825 12.9 L1825P
1835 14.6
1838 14.1
1839 12.8
1840 10.6
1841 10.7
1842 12.7 M1842L M1842L
1843 11.9
1846 14.9
1847 11.1 R1847C R1847H
1848 7.4
1849 3.8 H1849R
1851 4.4
1852 6.1
1853 5.5
1854 5.8
1855 10.3
1856 10.5
1857 10.1
1858 11.9
1859 15