D1689H Summary
SCN5A D1689H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1689H is not present in gnomAD. D1689H has been functionally characterized in 0 papers. Other variants at the same resdue are D1689A .D1689E .D1689E .D1689G .D1689H .D1689N .D1689V .D1689Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1689H 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 |
0.947 |
D1689H has 55 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 |
| 280 |
13.6 |
|
| 323 |
13.4 |
|
| 324 |
9.1 |
|
| 325 |
10.8 |
|
| 326 |
10.5 |
|
| 327 |
12.8 |
|
| 329 |
14.6 |
|
| 330 |
14.9 |
|
| 331 |
11.8 |
|
| 332 |
10.4 |
A332T |
| 333 |
7.9 |
|
| 334 |
9.9 |
|
| 335 |
12.6 |
C335R |
| 336 |
12.9 |
P336L |
| 375 |
11.7 |
|
| 376 |
12 |
R376H |
| 377 |
14.7 |
|
| 378 |
11.7 |
|
| 379 |
7.5 |
|
| 380 |
10.7 |
|
| 381 |
12.8 |
|
| 382 |
10.4 |
|
| 383 |
6.7 |
|
| 384 |
12.5 |
|
| 385 |
14.2 |
A385T |
| 386 |
12.9 |
G386E G386R G386R |
| 387 |
13.4 |
|
| 1680 |
14.6 |
A1680T |
| 1681 |
14.1 |
Y1681F |
| 1682 |
12.3 |
|
| 1683 |
12.1 |
|
| 1684 |
6.3 |
|
| 1685 |
9.5 |
|
| 1686 |
8.6 |
|
| 1687 |
5.8 |
|
| 1688 |
5.2 |
|
| 1690 |
4.9 |
D1690N |
| 1691 |
5.1 |
|
| 1692 |
5.3 |
|
| 1693 |
7.6 |
|
| 1694 |
11.5 |
|
| 1695 |
11.2 |
|
| 1696 |
13.2 |
|
| 1698 |
13.3 |
A1698T |
| 1699 |
9.7 |
|
| 1700 |
13 |
|
| 1702 |
11 |
|
| 1703 |
10.3 |
|
| 1706 |
12.4 |
|
| 1712 |
13.3 |
G1712S |
| 1715 |
11.4 |
|
| 1716 |
10.8 |
|
| 1718 |
14.1 |
|
| 1719 |
11.3 |
|
| 1720 |
14.3 |
|