D1531G Summary
SCN5A D1531G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1531G is not present in gnomAD. D1531G has been functionally characterized in 0 papers. Other variants at the same resdue are D1531A .D1531E .D1531E .D1531G .D1531H .D1531N .D1531V .D1531Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1531G 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 |
0.909 |
D1531G has 47 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 |
| 1510 |
14.7 |
|
| 1521 |
13.2 |
|
| 1522 |
12.1 |
|
| 1523 |
12 |
D1523N |
| 1524 |
8.9 |
I1524T |
| 1525 |
7.1 |
V1525M |
| 1526 |
7.8 |
T1526P |
| 1527 |
7 |
|
| 1528 |
6.4 |
|
| 1529 |
5.7 |
|
| 1530 |
4.4 |
|
| 1532 |
5.1 |
V1532F V1532I |
| 1533 |
6.7 |
T1533I |
| 1534 |
6.2 |
|
| 1535 |
6.6 |
|
| 1536 |
10.8 |
|
| 1537 |
11.2 |
|
| 1538 |
11.4 |
|
| 1539 |
12.6 |
C1539Y |
| 1540 |
14.8 |
|
| 1570 |
12.9 |
p.1570_F1571insI p.I1570dup |
| 1571 |
12.2 |
|
| 1573 |
12.4 |
|
| 1574 |
8.9 |
E1574K |
| 1575 |
12.3 |
|
| 1576 |
14.4 |
|
| 1577 |
10.7 |
|
| 1578 |
8.7 |
|
| 1579 |
14.8 |
|
| 1581 |
13.2 |
|
| 1582 |
12.9 |
|
| 1586 |
13.2 |
|
| 1589 |
12.6 |
|
| 1591 |
12.6 |
|
| 1592 |
11.1 |
|
| 1595 |
12 |
|
| 1629 |
12.1 |
R1629G R1629Q |
| 1630 |
13.3 |
|
| 1631 |
13.1 |
G1631D |
| 1632 |
8.9 |
R1632C R1632H |
| 1633 |
11.3 |
|
| 1634 |
13.6 |
|
| 1635 |
8.6 |
|
| 1636 |
8.7 |
|
| 1637 |
13.7 |
|
| 1638 |
12.4 |
R1638Q |
| 1796 |
14.8 |
|