A51P Summary
SCN5A A51P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A51P is not present in gnomAD. A51P has been functionally characterized in 0 papers. Other variants at the same resdue are A51D .A51G .A51P .A51S .A51T .A51V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A51P 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 |
0.311 |
A51P has 30 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 |
36 |
14.7 |
|
37 |
14.2 |
T37A |
38 |
13.7 |
|
39 |
13.2 |
|
40 |
12.6 |
|
41 |
12 |
|
42 |
11.4 |
|
43 |
10.7 |
R43Q |
44 |
10.1 |
|
45 |
9.3 |
|
46 |
8.5 |
|
47 |
7.6 |
|
48 |
6.6 |
E48K |
49 |
5.4 |
|
50 |
3.8 |
|
52 |
3.8 |
P52S |
53 |
5.4 |
R53Q |
54 |
6.6 |
|
55 |
7.6 |
|
56 |
8.5 |
|
57 |
9.3 |
|
58 |
10.1 |
|
59 |
10.7 |
|
60 |
11.4 |
A60P |
61 |
12 |
|
62 |
12.6 |
|
63 |
13.2 |
K63N K63N |
64 |
13.7 |
|
65 |
14.2 |
|
66 |
14.7 |
|