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 |
|