D1523G Summary
SCN5A D1523G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1523G is not present in gnomAD. D1523G has been functionally characterized in 0 papers. Other variants at the same resdue are D1523A .D1523E .D1523E .D1523G .D1523H .D1523N .D1523V .D1523Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1523G 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 |
0.974 |
D1523G has 35 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 |
1509 |
13.8 |
|
1510 |
11.3 |
|
1511 |
12.3 |
|
1512 |
7.1 |
R1512Q R1512W |
1513 |
9.9 |
|
1514 |
12.6 |
|
1515 |
12.5 |
N1515S |
1516 |
13.8 |
|
1517 |
11.5 |
|
1518 |
9.7 |
|
1519 |
5.2 |
|
1520 |
5.9 |
|
1521 |
6.7 |
|
1522 |
4.7 |
|
1524 |
5.2 |
I1524T |
1525 |
6.9 |
V1525M |
1526 |
5.5 |
T1526P |
1527 |
6.9 |
|
1528 |
10.9 |
|
1529 |
11.3 |
|
1530 |
10 |
|
1531 |
12 |
|
1573 |
14.9 |
|
1574 |
14.7 |
E1574K |
1576 |
14.2 |
|
1577 |
9.8 |
|
1578 |
11.9 |
|
1579 |
14.4 |
|
1580 |
11.3 |
|
1581 |
9 |
|
1582 |
11.5 |
|
1583 |
14.4 |
R1583C R1583H |
1799 |
15 |
|
1800 |
13.6 |
|
1803 |
14.8 |
|