A1581S Summary
SCN5A A1581S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1581S is present in 1 out of 31386 alleles in gnomAD (minor allele frequency of 0.003186%). A1581S has been functionally characterized in 0 papers. Other variants at the same resdue are A1581D .A1581G .A1581P .A1581S .A1581T .A1581V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1581S 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 |
Tolerated |
0.596 |
-0.77 |
possiblydamaging |
0.607 |
0.3249 |
-1.01 |
0 |
0.651 |
A1581S has 43 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 |
1508 |
14.9 |
|
1509 |
12.7 |
|
1510 |
7.9 |
|
1511 |
9.2 |
|
1512 |
8.4 |
R1512Q R1512W |
1513 |
6.6 |
|
1514 |
11.6 |
|
1515 |
11.9 |
N1515S |
1516 |
13.7 |
|
1517 |
12.7 |
|
1518 |
6.6 |
|
1519 |
7.9 |
|
1520 |
10.8 |
|
1521 |
5.9 |
|
1522 |
4.9 |
|
1523 |
9 |
D1523N |
1524 |
8.9 |
I1524T |
1525 |
6.4 |
V1525M |
1526 |
8.9 |
T1526P |
1527 |
12.7 |
|
1530 |
11.4 |
|
1531 |
13.2 |
|
1572 |
14.5 |
|
1573 |
11.8 |
|
1574 |
11.4 |
E1574K |
1575 |
10.2 |
|
1576 |
9.2 |
|
1577 |
6.4 |
|
1578 |
6.9 |
|
1579 |
6.1 |
|
1580 |
3.6 |
|
1582 |
3.8 |
|
1583 |
5.8 |
R1583C R1583H |
1584 |
9.4 |
|
1585 |
8.5 |
|
1586 |
8.5 |
|
1587 |
11.4 |
|
1588 |
12.6 |
|
1589 |
12.8 |
|
1592 |
11.4 |
|
1593 |
14.8 |
I1593M |
1595 |
14.5 |
|
1596 |
14 |
F1596I |