D1869N Summary

SCN5A D1869N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1869N is not present in gnomAD. D1869N has been functionally characterized in 0 papers. Other variants at the same resdue are D1869A .D1869E .D1869E .D1869G .D1869H .D1869N .D1869V .D1869Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1869N 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 0.784

D1869N has 24 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
1486 14.1
1488 13.2
1490 10.9
1491 11.3
1493 14.7 K1493R p.K1493del
1494 12.1
1784 12.6 E1784K
1859 12.6
1862 11.4
1863 11
1864 14.7
1865 12
1866 9
1867 6.8
1868 5.3
1870 4.3 A1870T
1871 7.1
1872 4.5
1873 8.5
1874 7.1
1875 11.8 p.M1875dup
1876 13.5
1877 11.1
1878 12.9