A2S Summary
SCN5A A2S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A2S is not present in gnomAD. A2S has been functionally characterized in 0 papers. Other variants at the same resdue are A2E .A2G .A2P .A2S .A2T .A2V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A2S 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 |
0.574 |
A2S has 16 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 |
| 1 |
3.8 |
|
| 3 |
3.8 |
|
| 4 |
5.4 |
|
| 5 |
6.6 |
|
| 6 |
7.6 |
|
| 7 |
8.5 |
|
| 8 |
9.3 |
R8Q |
| 9 |
10.1 |
G9S |
| 10 |
10.7 |
|
| 11 |
11.4 |
|
| 12 |
12 |
|
| 13 |
12.6 |
|
| 14 |
13.2 |
R14C R14H |
| 15 |
13.7 |
R15G R15M R15T |
| 16 |
14.2 |
|
| 17 |
14.7 |
|