D1816G Summary

SCN5A D1816G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1816G is not present in gnomAD. D1816G has been functionally characterized in 0 papers. Other variants at the same resdue are D1816A .D1816E .D1816E .D1816G .D1816H .D1816N .D1816V .D1816Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1816G 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 0.862

D1816G has 36 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
1793 14.9 M1793K
1794 13.1
1797 10.2
1798 11.7
1799 14.7
1800 11
1801 7.1
1802 13.3
1803 14.7
1809 9.9
1810 9.9
1811 10.5
1812 7.6 S1812L
1813 5.2
1814 6.7
1815 4.1
1817 6.5
1818 6.4
1819 5.9 D1819N
1820 7 A1820T
1821 9.5
1822 13.3
1825 13.8 L1825P
1826 11.6 R1826C R1826H
1827 9.9
1828 9.9 A1828T
1829 7.1
1830 11.3
1831 8.8
1832 11 Q1832E
1834 13.7
1835 11.1
1840 14.8
1848 13.2
1853 13
1857 13