A1569S Summary
SCN5A A1569S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1569S is not present in gnomAD. A1569S has been functionally characterized in 0 papers. Other variants at the same resdue are A1569D .A1569G .A1569P .A1569S .A1569T .A1569V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1569S 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 |
0.596 |
A1569S has 40 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 |
| 1530 |
13.5 |
|
| 1533 |
13.7 |
T1533I |
| 1534 |
11.1 |
|
| 1537 |
10.2 |
|
| 1538 |
12.9 |
|
| 1540 |
13.7 |
|
| 1541 |
12.2 |
|
| 1561 |
12.4 |
|
| 1562 |
12.4 |
|
| 1563 |
10.8 |
|
| 1564 |
9.6 |
|
| 1565 |
7.1 |
|
| 1566 |
5.8 |
|
| 1567 |
7.2 |
|
| 1568 |
4.1 |
|
| 1570 |
4.1 |
p.1570_F1571insI p.I1570dup |
| 1571 |
6.1 |
|
| 1572 |
4.8 |
|
| 1573 |
6.6 |
|
| 1574 |
9 |
E1574K |
| 1575 |
9.8 |
|
| 1576 |
10 |
|
| 1577 |
12.4 |
|
| 1578 |
13.6 |
|
| 1595 |
13 |
|
| 1596 |
13.9 |
F1596I |
| 1597 |
15 |
V1597M |
| 1598 |
11.8 |
|
| 1599 |
8.9 |
|
| 1600 |
12.5 |
|
| 1601 |
13.9 |
L1601H |
| 1602 |
9.3 |
|
| 1603 |
10.3 |
|
| 1604 |
14.3 |
V1604M |
| 1605 |
13.1 |
G1605C |
| 1606 |
10.3 |
T1606I |
| 1607 |
11.6 |
|
| 1622 |
14.4 |
|
| 1626 |
12.8 |
R1626C R1626H R1626P |
| 1629 |
13.5 |
R1629G R1629Q |