D1595Y Summary
SCN5A D1595Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1595Y is not present in gnomAD. D1595Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1595A .D1595E .D1595E .D1595G .D1595H .D1595N .D1595V .D1595Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D1595Y 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 |
0.975 |
D1595Y has 59 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 |
| 1525 |
13 |
V1525M |
| 1530 |
12.3 |
|
| 1531 |
12 |
|
| 1532 |
14.9 |
V1532F V1532I |
| 1533 |
14.4 |
T1533I |
| 1534 |
9.8 |
|
| 1535 |
10.1 |
|
| 1537 |
11.9 |
|
| 1538 |
9.4 |
|
| 1539 |
13.5 |
C1539Y |
| 1541 |
12.2 |
|
| 1542 |
13.9 |
|
| 1567 |
13.2 |
|
| 1568 |
11.1 |
|
| 1569 |
13 |
|
| 1570 |
12.1 |
p.1570_F1571insI p.I1570dup |
| 1571 |
7.7 |
|
| 1572 |
10.2 |
|
| 1573 |
10.8 |
|
| 1574 |
7 |
E1574K |
| 1575 |
7 |
|
| 1576 |
11.9 |
|
| 1577 |
12 |
|
| 1578 |
8.2 |
|
| 1579 |
10.9 |
|
| 1580 |
14.4 |
|
| 1581 |
14.5 |
|
| 1582 |
12.7 |
|
| 1586 |
7.8 |
|
| 1587 |
10.2 |
|
| 1588 |
12.5 |
|
| 1589 |
8.8 |
|
| 1590 |
8.4 |
|
| 1591 |
7.3 |
|
| 1592 |
5 |
|
| 1593 |
6.5 |
I1593M |
| 1594 |
5.8 |
|
| 1596 |
6.4 |
F1596I |
| 1597 |
6.8 |
V1597M |
| 1598 |
6 |
|
| 1599 |
7.2 |
|
| 1600 |
9.8 |
|
| 1601 |
11.1 |
L1601H |
| 1602 |
11.3 |
|
| 1603 |
13.3 |
|
| 1621 |
14.6 |
|
| 1622 |
11.9 |
|
| 1624 |
12.5 |
V1624I |
| 1625 |
8.6 |
|
| 1626 |
9.8 |
R1626C R1626H R1626P |
| 1627 |
11.5 |
|
| 1628 |
8.6 |
|
| 1629 |
4.6 |
R1629G R1629Q |
| 1630 |
10.6 |
|
| 1631 |
10.5 |
G1631D |
| 1632 |
7.1 |
R1632C R1632H |
| 1633 |
13.4 |
|
| 1634 |
14.7 |
|
| 1635 |
12 |
|