C1341Y Summary
SCN5A C1341Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1341Y is not present in gnomAD. C1341Y has been functionally characterized in 0 papers. Other variants at the same resdue are C1341F .C1341G .C1341R .C1341S .C1341S .C1341W .C1341Y .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
C1341Y 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 |
0.945 |
C1341Y has 66 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 |
| 815 |
13.8 |
|
| 816 |
13.6 |
F816Y |
| 818 |
14.4 |
|
| 819 |
13.9 |
|
| 822 |
13 |
|
| 824 |
11.4 |
|
| 825 |
10.6 |
|
| 827 |
14.4 |
|
| 828 |
10.5 |
|
| 829 |
13.2 |
|
| 832 |
13.8 |
|
| 938 |
14 |
|
| 942 |
13.7 |
|
| 1331 |
14.4 |
|
| 1332 |
14.8 |
P1332L |
| 1333 |
12 |
|
| 1334 |
9.9 |
I1334V |
| 1335 |
10.8 |
M1335R |
| 1336 |
9.5 |
|
| 1337 |
5.6 |
|
| 1338 |
5.3 |
L1338V |
| 1339 |
6.7 |
p.L1339del |
| 1340 |
4.2 |
V1340I |
| 1342 |
5.3 |
|
| 1343 |
6.5 |
|
| 1344 |
5.8 |
|
| 1345 |
4.9 |
W1345C W1345C |
| 1346 |
9.1 |
L1346P |
| 1347 |
10.5 |
|
| 1348 |
10.8 |
|
| 1349 |
12.3 |
|
| 1350 |
14.8 |
|
| 1405 |
14.6 |
V1405L V1405L V1405M |
| 1406 |
14.8 |
G1406E G1406R G1406R |
| 1408 |
14.2 |
G1408R G1408R |
| 1409 |
9.6 |
|
| 1410 |
13.7 |
|
| 1411 |
14.4 |
|
| 1412 |
11.3 |
|
| 1413 |
10.2 |
|
| 1414 |
14.8 |
|
| 1415 |
13.6 |
|
| 1416 |
10.7 |
|
| 1417 |
12.9 |
|
| 1453 |
10.8 |
|
| 1454 |
13 |
|
| 1455 |
13.4 |
|
| 1456 |
10.6 |
|
| 1457 |
7.7 |
|
| 1458 |
10.3 |
|
| 1459 |
13.3 |
|
| 1460 |
9 |
|
| 1461 |
5.4 |
T1461S T1461S |
| 1462 |
8.3 |
|
| 1463 |
11 |
|
| 1464 |
8.4 |
|
| 1465 |
8.2 |
|
| 1466 |
13.8 |
|
| 1467 |
13.6 |
|
| 1468 |
12.7 |
|
| 1753 |
13.2 |
|
| 1756 |
13.1 |
|
| 1757 |
11.2 |
|
| 1760 |
13.6 |
|
| 1761 |
10.5 |
L1761H |
| 1762 |
13.8 |
I1762M |