D1846E Summary

SCN5A D1846E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1846E is not present in gnomAD. D1846E has been functionally characterized in 0 papers. Other variants at the same resdue are D1846A .D1846E .D1846E .D1846G .D1846H .D1846N .D1846V .D1846Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1846E 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 0.769

D1846E has 25 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
1806 14
1808 10.2
1809 9.2
1810 6.8
1811 6.2
1812 8.4 S1812L
1813 10.7
1814 10.7
1815 13.8
1832 13.6 Q1832E
1835 13.8
1836 13.6 I1836T
1839 14.9
1840 11.1
1841 9.9
1842 5 M1842L M1842L
1843 6.6
1844 6.1
1845 3.7
1847 5.9 R1847C R1847H
1848 7.9
1849 12.7 H1849R
1850 14.9
1852 13.4
1853 14