D66V Summary
SCN5A D66V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D66V is not present in gnomAD. D66V has been functionally characterized in 0 papers. Other variants at the same resdue are D66A .D66E .D66E .D66G .D66H .D66N .D66V .D66Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D66V 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 |
0.565 |
D66V 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 |
51 |
14.7 |
A51V |
52 |
14.2 |
P52S |
53 |
13.7 |
R53Q |
54 |
13.2 |
|
55 |
12.6 |
|
56 |
12 |
|
57 |
11.4 |
|
58 |
10.7 |
|
59 |
10.1 |
|
60 |
9.3 |
A60P |
61 |
8.5 |
|
62 |
7.6 |
|
63 |
6.6 |
K63N K63N |
64 |
5.4 |
|
65 |
3.8 |
|
67 |
3.8 |
|
68 |
5.4 |
|
69 |
6.6 |
G69D |
70 |
7.6 |
N70K N70K N70S |
71 |
8.5 |
|
72 |
9.3 |
|
73 |
10.1 |
|
74 |
10.7 |
E74D E74D |
75 |
11.4 |
|
76 |
12 |
|
77 |
12.6 |
|
78 |
13.2 |
|
79 |
13.7 |
P79A |
80 |
14.2 |
|
81 |
14.7 |
|