D1423H Summary
SCN5A D1423H was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1423H is present in 1 out of 250700 alleles in gnomAD (minor allele frequency of 0.000399%). D1423H has been functionally characterized in 0 papers. Other variants at the same resdue are D1423A .D1423E .D1423E .D1423G .D1423H .D1423N .D1423V .D1423Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1423H 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 |
| Damaging |
0 |
-5.99 |
probablydamaging |
1 |
1.111 |
-2.89 |
-4 |
0.918 |
D1423H has 62 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 |
| 373 |
13.6 |
|
| 375 |
14.5 |
|
| 376 |
14.6 |
R376H |
| 877 |
13.3 |
|
| 878 |
7.4 |
R878C R878H |
| 879 |
9.4 |
W879R W879R |
| 886 |
14.9 |
H886P H886Q H886Q |
| 889 |
13.4 |
|
| 890 |
14.9 |
I890T |
| 893 |
11.2 |
R893C R893H |
| 898 |
11.8 |
|
| 901 |
11.5 |
E901K |
| 902 |
14.7 |
|
| 1356 |
13.9 |
|
| 1359 |
14.8 |
|
| 1360 |
10.3 |
|
| 1361 |
13.9 |
|
| 1362 |
11.1 |
|
| 1364 |
14.7 |
|
| 1378 |
14.1 |
V1378M |
| 1380 |
14.2 |
N1380K N1380K p.N1380del |
| 1397 |
14 |
|
| 1398 |
9.4 |
V1398M |
| 1399 |
11.2 |
|
| 1400 |
8.7 |
|
| 1401 |
12.2 |
|
| 1402 |
13.1 |
|
| 1408 |
14.8 |
G1408R G1408R |
| 1410 |
14.8 |
|
| 1411 |
11.2 |
|
| 1412 |
13.6 |
|
| 1413 |
14.6 |
|
| 1414 |
10.3 |
|
| 1415 |
10.6 |
|
| 1416 |
14.2 |
|
| 1417 |
13.7 |
|
| 1418 |
12.3 |
|
| 1419 |
10.1 |
|
| 1420 |
5.1 |
G1420R G1420V |
| 1421 |
7.6 |
|
| 1422 |
5.3 |
|
| 1424 |
5.2 |
|
| 1425 |
7.3 |
|
| 1426 |
6.4 |
|
| 1427 |
7.2 |
|
| 1428 |
9.5 |
A1428S A1428V |
| 1429 |
10.8 |
|
| 1430 |
10.7 |
D1430N |
| 1431 |
12.8 |
|
| 1438 |
13.7 |
|
| 1440 |
12.3 |
|
| 1444 |
15 |
|
| 1450 |
12.2 |
|
| 1686 |
12.6 |
|
| 1711 |
15 |
|
| 1712 |
12.5 |
G1712S |
| 1713 |
14.7 |
|
| 1714 |
9.1 |
|
| 1715 |
11.4 |
|
| 1716 |
15 |
|
| 1717 |
14 |
|
| 1718 |
12.5 |
|