A286V Summary
SCN5A A286V was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A286V is present in 2 out of 249284 alleles in gnomAD (minor allele frequency of 0.000802%). A286V has been functionally characterized in 0 papers. Other variants at the same resdue are A286E .A286G .A286P .A286S .A286T .A286V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A286V 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 |
| Tolerated |
0.649 |
-0.28 |
benign |
0 |
3.757 |
-1.25 |
-2 |
0.29 |
A286V has 13 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 |
| 281 |
14.4 |
V281M |
| 282 |
8.5 |
R282C R282H |
| 283 |
10.7 |
|
| 284 |
6.1 |
|
| 285 |
3.9 |
|
| 287 |
4 |
|
| 288 |
7.3 |
|
| 289 |
10.2 |
G289S |
| 318 |
14.5 |
|
| 319 |
12.8 |
G319S |
| 337 |
13.9 |
|
| 338 |
11.5 |
|
| 339 |
12.1 |
|