A1416E Summary
SCN5A A1416E was found in 1 paper (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 0 had other disease. A1416E is not present in gnomAD. A1416E has been functionally characterized in 0 papers. Other variants at the same resdue are A1416E .A1416G .A1416P .A1416S .A1416T .A1416V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1416E Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
25650408 | 2015 | 0 | 1 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A1416E 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 |
Damaging |
0 |
-4.77 |
probablydamaging |
1 |
0.3453 |
-3.49 |
-2 |
0.96 |
A1416E has 73 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 |
892 |
12.2 |
F892I |
893 |
13.1 |
R893C R893H |
895 |
13.1 |
|
896 |
9.3 |
|
897 |
12 |
|
898 |
12 |
|
927 |
14.9 |
N927S |
931 |
13.6 |
|
934 |
14.8 |
|
1337 |
14.7 |
|
1338 |
13.9 |
L1338V |
1340 |
14.5 |
V1340I |
1341 |
10.7 |
|
1342 |
13.1 |
|
1344 |
12.8 |
|
1345 |
8.1 |
W1345C W1345C |
1346 |
14.1 |
L1346P |
1347 |
14.6 |
|
1348 |
11.2 |
|
1349 |
13 |
|
1400 |
13.5 |
|
1402 |
13.5 |
|
1406 |
14.7 |
G1406E G1406R G1406R |
1407 |
14.1 |
|
1408 |
11.7 |
G1408R G1408R |
1409 |
10.1 |
|
1410 |
10.6 |
|
1411 |
8.7 |
|
1412 |
6.7 |
|
1413 |
5.5 |
|
1414 |
6.5 |
|
1415 |
4.1 |
|
1417 |
3.8 |
|
1418 |
5.1 |
|
1419 |
8.4 |
|
1420 |
10 |
G1420R G1420V |
1421 |
7.9 |
|
1422 |
11.8 |
|
1423 |
14.2 |
|
1424 |
11.2 |
|
1425 |
12.1 |
|
1449 |
12.3 |
Y1449C |
1450 |
9.6 |
|
1451 |
11.5 |
|
1452 |
12.3 |
|
1453 |
6.7 |
|
1454 |
6.4 |
|
1455 |
10.4 |
|
1456 |
11.4 |
|
1457 |
6.4 |
|
1458 |
5 |
|
1459 |
8.9 |
|
1460 |
11.9 |
|
1461 |
9.2 |
T1461S T1461S |
1462 |
6.8 |
|
1463 |
10.5 |
|
1464 |
13.2 |
|
1465 |
12.1 |
|
1709 |
14 |
T1709M |
1710 |
10 |
S1710L |
1711 |
12.9 |
|
1712 |
13.2 |
G1712S |
1713 |
10.4 |
|
1714 |
12.3 |
|
1717 |
14.6 |
|
1752 |
14.5 |
|
1753 |
12.8 |
|
1756 |
10.6 |
|
1757 |
13 |
|
1759 |
14.9 |
|
1760 |
9.9 |
|
1761 |
10.7 |
L1761H |
1765 |
14.8 |
|