D870V Summary
SCN5A D870V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D870V is not present in gnomAD. D870V has been functionally characterized in 0 papers. Other variants at the same resdue are D870A .D870E .D870E .D870G .D870H .D870N .D870V .D870Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D870V 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 |
0.55 |
D870V 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 |
| 350 |
12.6 |
|
| 863 |
14.6 |
|
| 864 |
11.7 |
|
| 865 |
10.9 |
|
| 866 |
10.7 |
S866L |
| 867 |
10.7 |
|
| 868 |
5.3 |
|
| 869 |
6.8 |
|
| 871 |
4.2 |
|
| 872 |
7.6 |
D872N |
| 873 |
6.9 |
|
| 874 |
6 |
G874D |
| 875 |
7.9 |
|
| 876 |
10.4 |
|
| 877 |
11.6 |
|
| 880 |
14.8 |
|
| 905 |
11.6 |
|
| 906 |
13.7 |
|
| 907 |
15 |
|
| 908 |
8.7 |
|
| 909 |
8.8 |
|
| 910 |
12.6 |
S910L |
| 911 |
14.1 |
|