A60D Summary
SCN5A A60D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A60D is not present in gnomAD. A60D has been functionally characterized in 0 papers. Other variants at the same resdue are A60D .A60G .A60P .A60S .A60T .A60V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A60D 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 |
0.763 |
A60D 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 |
45 |
14.7 |
|
46 |
14.2 |
|
47 |
13.7 |
|
48 |
13.2 |
E48K |
49 |
12.6 |
|
50 |
12 |
|
51 |
11.4 |
A51V |
52 |
10.7 |
P52S |
53 |
10.1 |
R53Q |
54 |
9.3 |
|
55 |
8.5 |
|
56 |
7.6 |
|
57 |
6.6 |
|
58 |
5.4 |
|
59 |
3.8 |
|
61 |
3.8 |
|
62 |
5.4 |
|
63 |
6.6 |
K63N K63N |
64 |
7.6 |
|
65 |
8.5 |
|
66 |
9.3 |
|
67 |
10.1 |
|
68 |
10.7 |
|
69 |
11.4 |
G69D |
70 |
12 |
N70K N70K N70S |
71 |
12.6 |
|
72 |
13.2 |
|
73 |
13.7 |
|
74 |
14.2 |
E74D E74D |
75 |
14.7 |
|