D1430V Summary
SCN5A D1430V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1430V is not present in gnomAD. D1430V has been functionally characterized in 0 papers. Other variants at the same resdue are D1430A .D1430E .D1430E .D1430G .D1430H .D1430N .D1430V .D1430Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1430V 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 |
0.974 |
D1430V has 61 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 |
| 877 |
14.5 |
|
| 878 |
10.3 |
R878C R878H |
| 879 |
12.2 |
W879R W879R |
| 880 |
15 |
|
| 886 |
13.4 |
H886P H886Q H886Q |
| 889 |
14.6 |
|
| 1352 |
14.9 |
|
| 1355 |
12.3 |
|
| 1356 |
10.1 |
|
| 1357 |
13.4 |
A1357V |
| 1358 |
12 |
|
| 1359 |
8.4 |
|
| 1360 |
7.8 |
|
| 1361 |
8.8 |
|
| 1362 |
7.2 |
|
| 1363 |
11.9 |
|
| 1364 |
12.9 |
|
| 1379 |
14.8 |
|
| 1380 |
10.3 |
N1380K N1380K p.N1380del |
| 1381 |
14.1 |
|
| 1382 |
11.5 |
S1382I |
| 1383 |
12.2 |
|
| 1386 |
12.4 |
|
| 1387 |
12 |
|
| 1388 |
14.1 |
|
| 1395 |
13.1 |
|
| 1396 |
13.5 |
|
| 1397 |
13.4 |
|
| 1398 |
11.1 |
V1398M |
| 1400 |
13.5 |
|
| 1401 |
13.6 |
|
| 1402 |
13 |
|
| 1420 |
14.9 |
G1420R G1420V |
| 1421 |
14.9 |
|
| 1422 |
12.5 |
|
| 1423 |
10.7 |
|
| 1424 |
10.3 |
|
| 1425 |
9.3 |
|
| 1426 |
5.2 |
|
| 1427 |
4.5 |
|
| 1428 |
5.4 |
A1428S A1428V |
| 1429 |
4.6 |
|
| 1431 |
4.1 |
|
| 1432 |
7.8 |
R1432S R1432S |
| 1433 |
8.9 |
G1433W |
| 1434 |
12.1 |
|
| 1435 |
14.2 |
|
| 1436 |
10.9 |
|
| 1437 |
8.1 |
|
| 1438 |
4.7 |
|
| 1439 |
5.9 |
|
| 1440 |
7.1 |
|
| 1441 |
8.8 |
|
| 1442 |
7.7 |
|
| 1443 |
7.7 |
N1443S |
| 1444 |
9.4 |
|
| 1445 |
11.9 |
Y1445H |
| 1446 |
11 |
|
| 1447 |
13 |
|
| 1449 |
14.2 |
Y1449C |
| 1450 |
13.2 |
|