A1411D Summary
SCN5A A1411D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1411D is not present in gnomAD. A1411D has been functionally characterized in 0 papers. Other variants at the same resdue are A1411D .A1411G .A1411P .A1411S .A1411T .A1411V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1411D 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 |
0.922 |
A1411D has 71 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 |
| 1341 |
14.4 |
|
| 1342 |
13.4 |
|
| 1345 |
9.9 |
W1345C W1345C |
| 1346 |
12.4 |
L1346P |
| 1347 |
14.3 |
|
| 1348 |
11.3 |
|
| 1349 |
9.1 |
|
| 1350 |
12.9 |
|
| 1351 |
13.1 |
|
| 1352 |
10.5 |
|
| 1353 |
11.9 |
V1353M |
| 1355 |
13.5 |
|
| 1356 |
10.4 |
|
| 1357 |
12.5 |
A1357V |
| 1358 |
14.3 |
|
| 1359 |
13.7 |
|
| 1360 |
10.4 |
|
| 1397 |
13.4 |
|
| 1398 |
10.6 |
V1398M |
| 1399 |
11 |
|
| 1400 |
5.8 |
|
| 1401 |
7 |
|
| 1402 |
6.2 |
|
| 1403 |
10.8 |
|
| 1404 |
10 |
|
| 1405 |
9.9 |
V1405L V1405L V1405M |
| 1406 |
8.1 |
G1406E G1406R G1406R |
| 1407 |
6.1 |
|
| 1408 |
4.5 |
G1408R G1408R |
| 1409 |
6.9 |
|
| 1410 |
4.8 |
|
| 1412 |
4.1 |
|
| 1413 |
5.6 |
|
| 1414 |
5.2 |
|
| 1415 |
6.4 |
|
| 1416 |
8.7 |
|
| 1417 |
9.8 |
|
| 1418 |
11.5 |
|
| 1419 |
11.2 |
|
| 1420 |
8.8 |
G1420R G1420V |
| 1421 |
10 |
|
| 1422 |
12.2 |
|
| 1423 |
11.2 |
|
| 1424 |
6.8 |
|
| 1425 |
10.9 |
|
| 1426 |
14.8 |
|
| 1427 |
11.7 |
|
| 1428 |
11.3 |
A1428S A1428V |
| 1429 |
14.8 |
|
| 1431 |
15 |
|
| 1449 |
11.4 |
Y1449C |
| 1450 |
9.8 |
|
| 1453 |
9.8 |
|
| 1454 |
12.2 |
|
| 1457 |
13 |
|
| 1458 |
13.2 |
|
| 1462 |
14.7 |
|
| 1710 |
14.6 |
S1710L |
| 1712 |
13.8 |
G1712S |
| 1713 |
11.9 |
|
| 1714 |
9.3 |
|
| 1715 |
13.3 |
|
| 1717 |
11 |
|
| 1718 |
12.2 |
|
| 1721 |
12.9 |
|
| 1723 |
13.8 |
T1723N |
| 1748 |
14.4 |
|
| 1749 |
11.8 |
|
| 1752 |
13.6 |
|
| 1753 |
12.3 |
|
| 1756 |
13.4 |
|