D1869E Summary
SCN5A D1869E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1869E is not present in gnomAD. D1869E 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.
D1869E 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 |
0.685 |
D1869E 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 |
|