D1690G Summary
SCN5A D1690G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1690G is not present in gnomAD. D1690G has been functionally characterized in 0 papers. Other variants at the same resdue are D1690A .D1690E .D1690E .D1690G .D1690H .D1690N .D1690V .D1690Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1690G 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 |
0.967 |
D1690G has 50 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 |
12.5 |
|
| 325 |
13.9 |
|
| 326 |
11.9 |
|
| 327 |
13.8 |
|
| 329 |
14.6 |
|
| 330 |
14 |
|
| 331 |
10.7 |
|
| 332 |
10.8 |
A332T |
| 333 |
7.9 |
|
| 334 |
9.2 |
|
| 335 |
11.8 |
C335R |
| 336 |
11.9 |
P336L |
| 379 |
11.9 |
|
| 382 |
13.1 |
|
| 383 |
9.6 |
|
| 384 |
14.9 |
|
| 386 |
14.6 |
G386E G386R G386R |
| 387 |
13.8 |
|
| 1227 |
12.2 |
|
| 1228 |
13.3 |
Y1228C Y1228H |
| 1676 |
14.7 |
M1676I M1676I M1676I |
| 1679 |
14.2 |
|
| 1680 |
12 |
A1680T |
| 1681 |
10.3 |
Y1681F |
| 1682 |
10.6 |
|
| 1683 |
10.5 |
|
| 1684 |
5.4 |
|
| 1685 |
10.7 |
|
| 1686 |
11.7 |
|
| 1687 |
9.5 |
|
| 1688 |
6.9 |
|
| 1689 |
4.9 |
|
| 1691 |
6.1 |
|
| 1692 |
8 |
|
| 1693 |
6.4 |
|
| 1694 |
10.9 |
|
| 1695 |
8 |
|
| 1696 |
11.2 |
|
| 1698 |
12.9 |
A1698T |
| 1699 |
9.4 |
|
| 1700 |
13.1 |
|
| 1702 |
12.7 |
|
| 1703 |
12.3 |
|
| 1715 |
14.6 |
|
| 1716 |
13.4 |
|
| 1719 |
12.5 |
|
| 1720 |
14.8 |
|
| 1739 |
14.4 |
R1739Q R1739W |
| 1740 |
14.8 |
G1740R G1740R |
| 1741 |
12.2 |
D1741N |