A1407V Summary
SCN5A A1407V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1407V is not present in gnomAD. A1407V has been functionally characterized in 0 papers. Other variants at the same resdue are A1407D .A1407G .A1407P .A1407S .A1407T .A1407V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1407V 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 |
0.625 |
A1407V has 62 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 |
| 735 |
11.7 |
A735E A735T A735V |
| 736 |
12.3 |
|
| 737 |
12.8 |
|
| 738 |
10.4 |
|
| 739 |
11.4 |
|
| 740 |
14 |
|
| 1342 |
13.4 |
|
| 1345 |
12.2 |
W1345C W1345C |
| 1346 |
11.6 |
L1346P |
| 1347 |
14.8 |
|
| 1348 |
13.6 |
|
| 1349 |
8.7 |
|
| 1350 |
11.4 |
|
| 1351 |
13.9 |
|
| 1352 |
10.4 |
|
| 1353 |
9.7 |
V1353M |
| 1354 |
13.9 |
|
| 1355 |
13.9 |
|
| 1356 |
11.3 |
|
| 1357 |
10.3 |
A1357V |
| 1358 |
12.2 |
|
| 1359 |
13.3 |
|
| 1360 |
10.8 |
|
| 1397 |
11.1 |
|
| 1398 |
10.6 |
V1398M |
| 1399 |
10.4 |
|
| 1400 |
7.2 |
|
| 1401 |
5.2 |
|
| 1402 |
6.2 |
|
| 1403 |
6.8 |
|
| 1404 |
4.5 |
|
| 1405 |
5.9 |
V1405L V1405L V1405M |
| 1406 |
3.3 |
G1406E G1406R G1406R |
| 1408 |
3.4 |
G1408R G1408R |
| 1409 |
7 |
|
| 1410 |
5.1 |
|
| 1411 |
6.1 |
|
| 1412 |
8.4 |
|
| 1413 |
9.6 |
|
| 1414 |
10.5 |
|
| 1415 |
12.4 |
|
| 1416 |
14.1 |
|
| 1420 |
14 |
G1420R G1420V |
| 1424 |
11.3 |
|
| 1427 |
14.3 |
|
| 1428 |
14.1 |
A1428S A1428V |
| 1449 |
14.6 |
Y1449C |
| 1450 |
14.5 |
|
| 1453 |
14.2 |
|
| 1714 |
12.7 |
|
| 1717 |
12.3 |
|
| 1718 |
12.9 |
|
| 1721 |
11.4 |
|
| 1722 |
12.8 |
N1722D |
| 1723 |
10.3 |
T1723N |
| 1724 |
12.5 |
|
| 1745 |
12.7 |
|
| 1746 |
12.8 |
A1746T A1746V |
| 1748 |
13.5 |
|
| 1749 |
10.3 |
|
| 1750 |
14.2 |
|
| 1753 |
13.1 |
|