A735P Summary
SCN5A A735P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A735P is not present in gnomAD. A735P has been functionally characterized in 0 papers. Other variants at the same resdue are A735E .A735G .A735P .A735S .A735T .A735V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A735P 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 |
0.955 |
A735P has 56 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 |
| 726 |
14.6 |
|
| 727 |
12.6 |
|
| 728 |
10.4 |
V728I |
| 729 |
10.2 |
|
| 730 |
8.9 |
|
| 731 |
6.3 |
|
| 732 |
5.4 |
|
| 733 |
7 |
F733L F733L F733L |
| 734 |
5.4 |
|
| 736 |
4.5 |
|
| 737 |
6.2 |
|
| 738 |
9.7 |
|
| 739 |
13.6 |
|
| 740 |
14.2 |
|
| 741 |
11.9 |
|
| 742 |
14 |
|
| 745 |
11.4 |
|
| 746 |
14.2 |
E746K |
| 748 |
11.6 |
|
| 749 |
9.4 |
|
| 750 |
14.5 |
|
| 752 |
12.6 |
G752R G752R |
| 753 |
12.1 |
|
| 756 |
13.8 |
|
| 808 |
12.6 |
R808C |
| 809 |
14.1 |
|
| 811 |
11.5 |
R811H |
| 812 |
10.8 |
|
| 814 |
13 |
R814Q |
| 815 |
11.4 |
|
| 818 |
14.4 |
|
| 1342 |
12.2 |
|
| 1343 |
12.4 |
|
| 1345 |
14.2 |
W1345C W1345C |
| 1346 |
8.1 |
L1346P |
| 1347 |
10.8 |
|
| 1348 |
13.4 |
|
| 1349 |
8.4 |
|
| 1350 |
6.3 |
|
| 1351 |
11.9 |
|
| 1352 |
11 |
|
| 1353 |
8.3 |
V1353M |
| 1354 |
10.2 |
|
| 1355 |
14.7 |
|
| 1357 |
12.4 |
A1357V |
| 1401 |
14.9 |
|
| 1402 |
12.8 |
|
| 1403 |
12.1 |
|
| 1404 |
8.7 |
|
| 1405 |
6 |
V1405L V1405L V1405M |
| 1406 |
9.7 |
G1406E G1406R G1406R |
| 1407 |
11.7 |
|
| 1408 |
11.2 |
G1408R G1408R |
| 1409 |
12 |
|
| 1410 |
14.7 |
|
| 1412 |
14.7 |
|