D331N Summary
SCN5A D331N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D331N is not present in gnomAD. D331N has been functionally characterized in 0 papers. Other variants at the same resdue are D331A .D331E .D331E .D331G .D331H .D331N .D331V .D331Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D331N 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 |
0.672 |
D331N has 43 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 |
| 325 |
14.2 |
|
| 326 |
11.8 |
|
| 327 |
10.4 |
|
| 328 |
10.1 |
|
| 329 |
6.4 |
|
| 330 |
3.8 |
|
| 332 |
5.1 |
A332T |
| 333 |
6.5 |
|
| 334 |
8.4 |
|
| 335 |
12.3 |
C335R |
| 378 |
13.3 |
|
| 379 |
13.5 |
|
| 381 |
12.9 |
|
| 382 |
9.2 |
|
| 383 |
10.3 |
|
| 384 |
11.2 |
|
| 385 |
9.8 |
A385T |
| 386 |
7.6 |
G386E G386R G386R |
| 387 |
5.4 |
|
| 388 |
9.1 |
|
| 389 |
11.7 |
|
| 390 |
11.9 |
|
| 391 |
14.9 |
|
| 1224 |
14.1 |
|
| 1227 |
13.6 |
|
| 1228 |
11 |
Y1228C Y1228H |
| 1231 |
14.9 |
E1231K |
| 1688 |
14.9 |
|
| 1689 |
11.8 |
|
| 1690 |
10.7 |
D1690N |
| 1691 |
7.1 |
|
| 1692 |
10.1 |
|
| 1693 |
10.5 |
|
| 1694 |
14.5 |
|
| 1695 |
11.5 |
|
| 1696 |
9.3 |
|
| 1697 |
10.5 |
|
| 1698 |
8.3 |
A1698T |
| 1699 |
7.9 |
|
| 1700 |
12.4 |
|
| 1701 |
12.9 |
M1701I M1701I M1701I |
| 1702 |
10.2 |
|
| 1703 |
13.6 |
|