A1628D Summary
SCN5A A1628D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1628D is not present in gnomAD. A1628D has been functionally characterized in 0 papers. Other variants at the same resdue are A1628D .A1628G .A1628P .A1628S .A1628T .A1628V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A1628D 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 |
0.972 |
A1628D 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 |
| 259 |
11.2 |
|
| 260 |
12 |
|
| 261 |
14.9 |
|
| 262 |
12 |
|
| 263 |
8.4 |
V263I |
| 264 |
10.3 |
|
| 265 |
13.3 |
|
| 266 |
10.9 |
|
| 267 |
9.6 |
|
| 268 |
13.9 |
|
| 270 |
13.1 |
Q270K |
| 271 |
13.7 |
|
| 391 |
14.8 |
|
| 392 |
13.8 |
|
| 395 |
11.7 |
|
| 396 |
14.6 |
|
| 399 |
13.3 |
|
| 1534 |
14 |
|
| 1535 |
11.5 |
|
| 1537 |
13.7 |
|
| 1538 |
9 |
|
| 1539 |
11.5 |
C1539Y |
| 1540 |
14.6 |
|
| 1541 |
10.6 |
|
| 1542 |
9.2 |
|
| 1543 |
14.5 |
V1543A V1543L V1543L |
| 1544 |
14.9 |
|
| 1545 |
11.6 |
|
| 1546 |
14.3 |
|
| 1571 |
12.7 |
|
| 1574 |
14.4 |
E1574K |
| 1589 |
13 |
|
| 1590 |
10.3 |
|
| 1591 |
7.5 |
|
| 1592 |
11.6 |
|
| 1593 |
11.2 |
I1593M |
| 1594 |
6.7 |
|
| 1595 |
8.6 |
|
| 1596 |
13.4 |
F1596I |
| 1597 |
10.4 |
V1597M |
| 1598 |
9 |
|
| 1599 |
13 |
|
| 1601 |
13.3 |
L1601H |
| 1602 |
14.7 |
|
| 1619 |
14.7 |
|
| 1620 |
13 |
T1620K T1620M |
| 1621 |
11 |
|
| 1622 |
10.8 |
|
| 1623 |
11 |
R1623L R1623Q |
| 1624 |
6.5 |
V1624I |
| 1625 |
5.9 |
|
| 1626 |
8 |
R1626C R1626H R1626P |
| 1627 |
4.8 |
|
| 1629 |
5.6 |
R1629G R1629Q |
| 1630 |
5.8 |
|
| 1631 |
6.3 |
G1631D |
| 1632 |
7.8 |
R1632C R1632H |
| 1633 |
10.6 |
|
| 1634 |
11.4 |
|
| 1635 |
12.8 |
|
| 1636 |
14.7 |
|