D772E Summary
SCN5A D772E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D772E is not present in gnomAD. D772E has been functionally characterized in 0 papers. Other variants at the same resdue are D772A .D772E .D772E .D772G .D772H .D772N .D772V .D772Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D772E 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 |
0.659 |
D772E has 22 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 |
| 710 |
12.1 |
|
| 711 |
10.6 |
|
| 714 |
12.7 |
V714A |
| 715 |
14.5 |
|
| 764 |
12.9 |
M764K |
| 765 |
11.8 |
|
| 766 |
12.5 |
|
| 767 |
10.3 |
|
| 768 |
6.9 |
|
| 769 |
7.3 |
|
| 770 |
6.6 |
|
| 771 |
5.4 |
|
| 773 |
3.9 |
|
| 774 |
5.3 |
Y774C |
| 775 |
4.8 |
|
| 776 |
7.4 |
|
| 777 |
8.6 |
|
| 778 |
9.5 |
|
| 779 |
12.2 |
Q779K |
| 782 |
11.5 |
|
| 783 |
13.6 |
|
| 786 |
14.2 |
|