A1640G Summary
SCN5A A1640G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1640G is not present in gnomAD. A1640G has been functionally characterized in 0 papers. Other variants at the same resdue are A1640D .A1640G .A1640P .A1640S .A1640T .A1640V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A1640G 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 |
0.915 |
A1640G has 35 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 |
249 |
13.1 |
|
250 |
13.7 |
|
251 |
10.8 |
|
252 |
7.1 |
|
253 |
11.2 |
|
254 |
13.7 |
|
255 |
10 |
|
256 |
11 |
|
257 |
14.8 |
|
259 |
14.1 |
|
1633 |
11.9 |
|
1634 |
11.4 |
|
1635 |
13.8 |
|
1636 |
10.2 |
|
1637 |
6 |
|
1638 |
8.5 |
R1638Q |
1639 |
3.4 |
G1639A |
1641 |
5 |
|
1642 |
5.2 |
|
1643 |
5.7 |
|
1644 |
7.2 |
R1644C R1644H |
1645 |
8.4 |
T1645M |
1646 |
10 |
|
1647 |
10.2 |
|
1648 |
13.4 |
|
1649 |
14.5 |
|
1778 |
14.8 |
|
1779 |
14.5 |
T1779M |
1782 |
13.4 |
|
1787 |
13.6 |
S1787N |
1789 |
11.1 |
|
1790 |
13.6 |
D1790G D1790N |
1793 |
14.1 |
M1793K |
1822 |
14.4 |
|
1823 |
14.4 |
E1823K |