C1575W Summary
SCN5A C1575W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1575W is not present in gnomAD. C1575W has been functionally characterized in 0 papers. Other variants at the same resdue are C1575F .C1575G .C1575R .C1575S .C1575S .C1575W .C1575Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C1575W 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 |
0.817 |
C1575W has 54 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 |
| 1518 |
14.1 |
|
| 1521 |
11.1 |
|
| 1522 |
13.6 |
|
| 1524 |
11.9 |
I1524T |
| 1525 |
10.2 |
V1525M |
| 1526 |
14.2 |
T1526P |
| 1530 |
10.2 |
|
| 1531 |
12.3 |
|
| 1533 |
14.1 |
T1533I |
| 1534 |
10.1 |
|
| 1535 |
13.1 |
|
| 1537 |
13.1 |
|
| 1538 |
13.2 |
|
| 1566 |
14.7 |
|
| 1567 |
13.6 |
|
| 1568 |
10 |
|
| 1569 |
9.8 |
|
| 1570 |
9.5 |
p.1570_F1571insI p.I1570dup |
| 1571 |
7.4 |
|
| 1572 |
5.5 |
|
| 1573 |
5.2 |
|
| 1574 |
4.2 |
E1574K |
| 1576 |
5 |
|
| 1577 |
6.4 |
|
| 1578 |
5.2 |
|
| 1579 |
6.2 |
|
| 1580 |
8.8 |
|
| 1581 |
10.2 |
|
| 1582 |
10.1 |
|
| 1583 |
12.2 |
R1583C R1583H |
| 1584 |
13.8 |
|
| 1585 |
14.5 |
|
| 1586 |
7.1 |
|
| 1587 |
10.5 |
|
| 1588 |
14.3 |
|
| 1589 |
12.1 |
|
| 1590 |
13.6 |
|
| 1591 |
13.4 |
|
| 1592 |
7.9 |
|
| 1593 |
10.4 |
I1593M |
| 1594 |
12.1 |
|
| 1595 |
7 |
|
| 1596 |
6.7 |
F1596I |
| 1597 |
10.2 |
V1597M |
| 1598 |
9.6 |
|
| 1599 |
6.8 |
|
| 1600 |
9.5 |
|
| 1601 |
13 |
L1601H |
| 1602 |
11.4 |
|
| 1603 |
11.6 |
|
| 1625 |
14.2 |
|
| 1626 |
14.1 |
R1626C R1626H R1626P |
| 1629 |
10.5 |
R1629G R1629Q |
| 1632 |
12.3 |
R1632C R1632H |