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 |
|