C1363S Summary
SCN5A C1363S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1363S is not present in gnomAD. C1363S has been functionally characterized in 0 papers. Other variants at the same resdue are C1363F .C1363G .C1363R .C1363S .C1363S .C1363W .C1363Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C1363S 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 |
0.973 |
C1363S has 41 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 |
1358 |
14 |
|
1359 |
13.6 |
|
1360 |
12.4 |
|
1361 |
7.1 |
|
1362 |
6 |
|
1364 |
4.4 |
|
1365 |
6.3 |
|
1366 |
10.3 |
|
1367 |
11.9 |
|
1378 |
9.8 |
V1378M |
1379 |
7.8 |
|
1380 |
5.5 |
N1380K N1380K p.N1380del |
1381 |
6.9 |
|
1382 |
8.9 |
S1382I |
1383 |
11 |
|
1384 |
11.7 |
|
1385 |
10 |
|
1386 |
5.8 |
|
1387 |
8.9 |
|
1388 |
8.5 |
|
1389 |
8.2 |
|
1390 |
10 |
|
1391 |
9.5 |
G1391R G1391R |
1392 |
11.1 |
|
1393 |
8.5 |
|
1394 |
7.5 |
|
1395 |
5.3 |
|
1396 |
6.5 |
|
1397 |
11.1 |
|
1398 |
11.8 |
V1398M |
1426 |
13.9 |
|
1427 |
13.1 |
|
1430 |
11.9 |
D1430N |
1431 |
12.6 |
|
1432 |
13.5 |
R1432S R1432S |
1433 |
13 |
G1433W |
1435 |
12.6 |
|
1436 |
11.2 |
|
1437 |
6.1 |
|
1438 |
8 |
|
1439 |
10.9 |
|