D1714N Summary
SCN5A D1714N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1714N is not present in gnomAD. D1714N has been functionally characterized in 0 papers. Other variants at the same resdue are D1714A .D1714E .D1714E .D1714G .D1714H .D1714N .D1714V .D1714Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1714N 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 |
0.744 |
D1714N has 66 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 |
12.9 |
|
| 374 |
14.9 |
|
| 375 |
10.7 |
|
| 376 |
13.8 |
R376H |
| 379 |
14.2 |
|
| 898 |
13.9 |
|
| 1360 |
14.5 |
|
| 1398 |
11.5 |
V1398M |
| 1399 |
8.8 |
|
| 1400 |
7.8 |
|
| 1401 |
12.2 |
|
| 1402 |
14.3 |
|
| 1406 |
14.8 |
G1406E G1406R G1406R |
| 1407 |
12.7 |
|
| 1408 |
13.2 |
G1408R G1408R |
| 1409 |
14 |
|
| 1410 |
9.8 |
|
| 1411 |
9.3 |
|
| 1412 |
12.5 |
|
| 1413 |
10.3 |
|
| 1414 |
6 |
|
| 1415 |
10.7 |
|
| 1416 |
12.3 |
|
| 1417 |
10.1 |
|
| 1418 |
11.9 |
|
| 1419 |
7.2 |
|
| 1420 |
5.8 |
G1420R G1420V |
| 1421 |
10.4 |
|
| 1422 |
11.4 |
|
| 1423 |
9.1 |
|
| 1424 |
9.4 |
|
| 1425 |
13.9 |
|
| 1427 |
14.2 |
|
| 1685 |
10.9 |
|
| 1686 |
8.4 |
|
| 1687 |
9.6 |
|
| 1688 |
11.9 |
|
| 1692 |
14.9 |
|
| 1703 |
13.2 |
|
| 1704 |
14.9 |
|
| 1706 |
11.9 |
|
| 1707 |
11.1 |
|
| 1709 |
14 |
T1709M |
| 1710 |
10.6 |
S1710L |
| 1711 |
9.4 |
|
| 1712 |
5.9 |
G1712S |
| 1713 |
7.1 |
|
| 1715 |
4.1 |
|
| 1716 |
6.7 |
|
| 1717 |
5.2 |
|
| 1718 |
5.9 |
|
| 1719 |
8.7 |
|
| 1720 |
10 |
|
| 1721 |
9.6 |
|
| 1722 |
13.8 |
N1722D |
| 1723 |
13.5 |
T1723N |
| 1744 |
14 |
S1744I |
| 1745 |
14.2 |
|
| 1748 |
11.7 |
|
| 1749 |
11.9 |
|
| 1751 |
13.9 |
|
| 1752 |
9.6 |
|
| 1753 |
12.7 |
|
| 1755 |
14.5 |
|
| 1756 |
12.4 |
|
| 1760 |
14.8 |
|