D716V Summary
SCN5A D716V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D716V is not present in gnomAD. D716V has been functionally characterized in 0 papers. Other variants at the same resdue are D716A .D716E .D716E .D716G .D716H .D716N .D716V .D716Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D716V 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 |
0.931 |
D716V has 23 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 |
9.7 |
|
| 711 |
9.7 |
|
| 712 |
7.1 |
|
| 713 |
5 |
|
| 714 |
5.7 |
V714A |
| 715 |
5.9 |
|
| 717 |
3.9 |
P717L |
| 718 |
4.7 |
|
| 719 |
5.2 |
|
| 720 |
7 |
|
| 721 |
8.6 |
|
| 722 |
9.7 |
|
| 723 |
10.8 |
I723V |
| 724 |
12.6 |
T724I |
| 725 |
13.6 |
|
| 763 |
11.4 |
E763K |
| 764 |
14.4 |
M764K |
| 766 |
13.2 |
|
| 767 |
10.8 |
|
| 770 |
12.8 |
|
| 771 |
13.1 |
|
| 820 |
14.4 |
|
| 821 |
14.8 |
|