C1539W Summary
SCN5A C1539W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1539W is not present in gnomAD. C1539W has been functionally characterized in 0 papers. Other variants at the same resdue are C1539F .C1539G .C1539R .C1539S .C1539S .C1539W .C1539Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C1539W 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 |
0.785 |
C1539W has 53 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 |
| 255 |
14.4 |
|
| 256 |
14.9 |
|
| 258 |
13.5 |
|
| 259 |
9.7 |
|
| 260 |
13.6 |
|
| 262 |
10.6 |
|
| 263 |
10.9 |
V263I |
| 265 |
14.5 |
|
| 266 |
11.8 |
|
| 267 |
14.8 |
|
| 358 |
14.4 |
|
| 1529 |
14.5 |
|
| 1530 |
14.2 |
|
| 1531 |
12.6 |
|
| 1532 |
10.2 |
V1532F V1532I |
| 1533 |
10 |
T1533I |
| 1534 |
9 |
|
| 1535 |
6.3 |
|
| 1536 |
5.6 |
|
| 1537 |
6.3 |
|
| 1538 |
4.4 |
|
| 1540 |
4.9 |
|
| 1541 |
6.7 |
|
| 1542 |
5.6 |
|
| 1543 |
6.9 |
V1543A V1543L V1543L |
| 1544 |
9.6 |
|
| 1545 |
10.4 |
|
| 1546 |
10.1 |
|
| 1547 |
13.7 |
|
| 1563 |
13.2 |
|
| 1564 |
13.6 |
|
| 1566 |
14.2 |
|
| 1567 |
10.2 |
|
| 1568 |
14.6 |
|
| 1570 |
13.1 |
p.1570_F1571insI p.I1570dup |
| 1571 |
11.4 |
|
| 1574 |
13.7 |
E1574K |
| 1591 |
14.1 |
|
| 1595 |
13.5 |
|
| 1598 |
14.9 |
|
| 1625 |
14.9 |
|
| 1626 |
11.2 |
R1626C R1626H R1626P |
| 1627 |
10.1 |
|
| 1628 |
11.5 |
|
| 1629 |
9.4 |
R1629G R1629Q |
| 1630 |
6.6 |
|
| 1631 |
10.2 |
G1631D |
| 1632 |
9.4 |
R1632C R1632H |
| 1633 |
8.4 |
|
| 1634 |
12.8 |
|
| 1635 |
13.3 |
|
| 1636 |
10.8 |
|
| 1637 |
14.3 |
|