A1686T Summary
SCN5A A1686T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1686T is not present in gnomAD. A1686T has been functionally characterized in 0 papers. Other variants at the same resdue are A1686D .A1686G .A1686P .A1686S .A1686T .A1686V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1686T 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 |
0.432 |
A1686T has 47 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 |
| 324 |
13.2 |
|
| 375 |
10.8 |
|
| 376 |
11.9 |
R376H |
| 379 |
10.9 |
|
| 380 |
14.4 |
|
| 383 |
13.8 |
|
| 1378 |
13.7 |
V1378M |
| 1398 |
14.1 |
V1398M |
| 1399 |
10.4 |
|
| 1400 |
13.3 |
|
| 1414 |
14.4 |
|
| 1419 |
13.6 |
|
| 1420 |
12.1 |
G1420R G1420V |
| 1423 |
12.6 |
|
| 1679 |
14.6 |
|
| 1682 |
11.8 |
|
| 1683 |
10.6 |
|
| 1684 |
8.1 |
|
| 1685 |
4.2 |
|
| 1687 |
4 |
|
| 1688 |
6 |
|
| 1689 |
8.6 |
|
| 1690 |
11.7 |
D1690N |
| 1691 |
13 |
|
| 1692 |
10.8 |
|
| 1693 |
12.3 |
|
| 1694 |
13.2 |
|
| 1703 |
12.4 |
|
| 1706 |
12.9 |
|
| 1707 |
14.3 |
|
| 1711 |
13.1 |
|
| 1712 |
9.6 |
G1712S |
| 1713 |
13.2 |
|
| 1714 |
8.4 |
|
| 1715 |
5.1 |
|
| 1716 |
7.4 |
|
| 1717 |
9.5 |
|
| 1718 |
6.7 |
|
| 1719 |
6 |
|
| 1720 |
10.2 |
|
| 1721 |
11.4 |
|
| 1722 |
14.3 |
N1722D |
| 1723 |
14.9 |
T1723N |
| 1741 |
14.9 |
D1741N |
| 1743 |
14.1 |
G1743E G1743R G1743R |
| 1744 |
14.4 |
S1744I |
| 1752 |
14.2 |
|