A762P Summary
SCN5A A762P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A762P is not present in gnomAD. A762P has been functionally characterized in 0 papers. Other variants at the same resdue are A762E .A762G .A762P .A762S .A762T .A762V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A762P 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 |
0.936 |
A762P has 41 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 |
710 |
10.7 |
|
713 |
11.9 |
|
714 |
12.1 |
V714A |
719 |
10.9 |
|
720 |
12.7 |
|
722 |
12 |
|
723 |
10.2 |
I723V |
724 |
14.9 |
T724I |
726 |
11.9 |
|
727 |
14 |
|
752 |
14.8 |
G752R G752R |
753 |
14.8 |
|
754 |
13.2 |
|
755 |
10.8 |
|
756 |
11 |
|
757 |
8.9 |
|
758 |
5.8 |
|
759 |
5.7 |
I759V |
760 |
7.1 |
|
761 |
4.1 |
|
763 |
4.1 |
E763K |
764 |
6.1 |
M764K |
765 |
4.9 |
|
766 |
5.2 |
|
767 |
8.3 |
|
768 |
9.6 |
|
769 |
10 |
|
770 |
11.8 |
|
771 |
13.3 |
|
776 |
12.7 |
|
782 |
13.4 |
|
785 |
11.3 |
D785N |
786 |
11.6 |
|
787 |
15 |
|
788 |
12.3 |
|
789 |
9.3 |
V789I |
790 |
13.1 |
|
792 |
12.5 |
|
793 |
11.9 |
|
814 |
13.5 |
R814Q |
817 |
14.4 |
|