D501V Summary
SCN5A D501V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D501V is not present in gnomAD. D501V has been functionally characterized in 0 papers. Other variants at the same resdue are D501A .D501E .D501E .D501G .D501H .D501N .D501V .D501Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D501V 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 |
0.765 |
D501V has 30 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 |
| 486 |
14.7 |
|
| 487 |
14.2 |
|
| 488 |
13.7 |
|
| 489 |
13.2 |
|
| 490 |
12.6 |
|
| 491 |
12 |
|
| 492 |
11.4 |
|
| 493 |
10.7 |
R493K |
| 494 |
10.1 |
|
| 495 |
9.3 |
|
| 496 |
8.5 |
|
| 497 |
7.6 |
|
| 498 |
6.6 |
|
| 499 |
5.4 |
|
| 500 |
3.8 |
|
| 502 |
3.8 |
|
| 503 |
5.4 |
|
| 504 |
6.6 |
R504T |
| 505 |
7.6 |
|
| 506 |
8.5 |
M506K |
| 507 |
9.3 |
|
| 508 |
10.1 |
|
| 509 |
10.7 |
|
| 510 |
11.4 |
|
| 511 |
12 |
|
| 512 |
12.6 |
T512I |
| 513 |
13.2 |
R513C |
| 514 |
13.7 |
G514C |
| 515 |
14.2 |
|
| 516 |
14.7 |
|