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 |
|