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 |
|