D252Y Summary
SCN5A D252Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D252Y is not present in gnomAD. D252Y has been functionally characterized in 0 papers. Other variants at the same resdue are D252A .D252E .D252E .D252G .D252H .D252N .D252V .D252Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D252Y 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 |
0.958 |
D252Y has 42 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 |
245 |
12.8 |
Q245K |
246 |
12.1 |
|
247 |
10.7 |
V247L V247L |
248 |
10.1 |
|
249 |
8.3 |
|
250 |
6.9 |
|
251 |
3.9 |
|
253 |
5.1 |
|
254 |
7.1 |
|
255 |
5.7 |
|
256 |
7.6 |
|
257 |
9.7 |
|
258 |
10.9 |
|
259 |
12.3 |
|
260 |
13.1 |
|
261 |
15 |
|
404 |
12.5 |
|
407 |
10.8 |
|
408 |
11.6 |
|
410 |
13.3 |
|
411 |
10.5 |
V411M |
412 |
14.3 |
|
414 |
13.2 |
|
415 |
14.7 |
|
1633 |
14.1 |
|
1634 |
13.6 |
|
1636 |
14.7 |
|
1637 |
10.5 |
|
1638 |
15 |
R1638Q |
1639 |
10.4 |
G1639A |
1640 |
7.1 |
|
1641 |
10.7 |
|
1642 |
6 |
|
1643 |
5.5 |
|
1644 |
11.6 |
R1644C R1644H |
1645 |
10.6 |
T1645M |
1646 |
8.8 |
|
1647 |
10.6 |
|
1649 |
14.5 |
|
1650 |
14 |
|
1775 |
12.9 |
|
1779 |
14 |
T1779M |