D1839E Summary
SCN5A D1839E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1839E is not present in gnomAD. D1839E has been functionally characterized in 0 papers. Other variants at the same resdue are D1839A .D1839E .D1839E .D1839G .D1839H .D1839N .D1839V .D1839Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
D1839E 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 |
0.881 |
D1839E has 41 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 |
1498 |
14.4 |
M1498R M1498T |
1501 |
13.7 |
L1501V |
1809 |
14.5 |
|
1811 |
12.8 |
|
1814 |
12.7 |
|
1827 |
14.5 |
|
1832 |
14 |
Q1832E |
1833 |
14 |
|
1834 |
11.5 |
|
1835 |
9.9 |
|
1836 |
9.5 |
I1836T |
1837 |
8.8 |
|
1838 |
5.8 |
|
1840 |
4.8 |
|
1841 |
5.9 |
|
1842 |
10.2 |
M1842L M1842L |
1843 |
13.3 |
|
1846 |
14.9 |
|
1848 |
10.1 |
|
1849 |
11.8 |
H1849R |
1850 |
12.8 |
|
1851 |
11.7 |
|
1852 |
6.9 |
|
1853 |
9 |
|
1854 |
11.4 |
|
1855 |
7.4 |
|
1856 |
6.5 |
|
1857 |
9.8 |
|
1858 |
11.8 |
|
1859 |
8.9 |
|
1860 |
11.5 |
|
1861 |
14.6 |
|
1862 |
14.7 |
|
1863 |
14.6 |
|
1876 |
13.2 |
|
1877 |
10.9 |
|
1879 |
15 |
|
1880 |
8.9 |
M1880V |
1881 |
12.3 |
|
1883 |
14.6 |
|
1884 |
13.5 |
P1884L |