A1769T Summary
SCN5A A1769T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1769T is not present in gnomAD. A1769T has been functionally characterized in 0 papers. Other variants at the same resdue are A1769D .A1769G .A1769P .A1769S .A1769T .A1769V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A1769T 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 |
0.947 |
A1769T has 83 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 |
| 398 |
14.1 |
|
| 401 |
14.3 |
|
| 402 |
11.4 |
F402L F402L F402L |
| 403 |
11.3 |
|
| 404 |
14.1 |
|
| 405 |
12.1 |
|
| 406 |
8.2 |
N406K N406K N406S |
| 407 |
11.8 |
|
| 408 |
13.6 |
|
| 409 |
9.6 |
L409V |
| 410 |
9.9 |
|
| 411 |
13.9 |
V411M |
| 412 |
14 |
|
| 413 |
12 |
A413T |
| 414 |
14.3 |
|
| 932 |
13.2 |
|
| 935 |
11.5 |
|
| 936 |
13 |
|
| 938 |
14.2 |
|
| 939 |
10.9 |
|
| 943 |
14.9 |
|
| 1319 |
13.9 |
G1319V |
| 1320 |
14 |
M1320I M1320I M1320I |
| 1322 |
11.2 |
|
| 1323 |
10.3 |
|
| 1324 |
13.9 |
|
| 1325 |
14.2 |
N1325S |
| 1326 |
10.3 |
|
| 1327 |
12.4 |
|
| 1329 |
14.2 |
G1329S |
| 1330 |
12.6 |
A1330T |
| 1334 |
14.8 |
I1334V |
| 1463 |
13.1 |
|
| 1464 |
13.8 |
|
| 1465 |
12.5 |
|
| 1466 |
7.3 |
|
| 1467 |
8.9 |
|
| 1468 |
10.1 |
|
| 1469 |
6.5 |
|
| 1470 |
5 |
|
| 1471 |
9.1 |
|
| 1472 |
9.3 |
p.N1472del |
| 1473 |
5.4 |
F1473C |
| 1474 |
9.1 |
|
| 1475 |
12.7 |
|
| 1476 |
11.4 |
Q1476R |
| 1477 |
9.6 |
|
| 1478 |
13.8 |
|
| 1480 |
14.7 |
|
| 1649 |
12.3 |
|
| 1650 |
12.2 |
|
| 1652 |
12.5 |
|
| 1653 |
9.6 |
|
| 1654 |
13.3 |
|
| 1655 |
13.4 |
|
| 1656 |
10.1 |
|
| 1657 |
9.2 |
|
| 1658 |
14.2 |
|
| 1659 |
13.2 |
|
| 1660 |
10.1 |
I1660V |
| 1661 |
14 |
G1661R G1661R |
| 1663 |
14.2 |
|
| 1664 |
14.5 |
|
| 1759 |
14.1 |
|
| 1760 |
14.1 |
|
| 1761 |
13.4 |
L1761H |
| 1762 |
11 |
I1762M |
| 1763 |
10 |
V1763M |
| 1764 |
9.4 |
|
| 1765 |
7.3 |
|
| 1766 |
6.4 |
M1766T M1766V |
| 1767 |
7.3 |
Y1767C |
| 1768 |
4.4 |
I1768V |
| 1770 |
4.1 |
|
| 1771 |
5.7 |
|
| 1772 |
4.9 |
|
| 1773 |
5.7 |
|
| 1774 |
8.2 |
|
| 1775 |
10.7 |
|
| 1776 |
10.3 |
|
| 1777 |
12.1 |
V1777M |
| 1778 |
14.3 |
|
| 1779 |
14.9 |
T1779M |