D152G Summary
SCN5A D152G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D152G is not present in gnomAD. D152G has been functionally characterized in 0 papers. Other variants at the same resdue are D152A .D152E .D152E .D152G .D152H .D152N .D152V .D152Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D152G 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 |
0.718 |
D152G has 40 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 |
144 |
13.6 |
|
145 |
13 |
|
146 |
11 |
V146A V146M |
147 |
10 |
|
148 |
9.4 |
|
149 |
5.9 |
|
150 |
6.3 |
|
151 |
5.7 |
|
153 |
4.6 |
|
154 |
5.9 |
|
155 |
8.7 |
|
156 |
9.2 |
|
157 |
12.4 |
|
161 |
14.6 |
E161K |
219 |
13.3 |
R219C |
851 |
13.4 |
F851L F851L F851L |
854 |
12.3 |
|
855 |
10.9 |
|
856 |
14.4 |
|
857 |
13 |
G857D |
858 |
8.3 |
M858L M858L |
859 |
11.7 |
|
862 |
11.8 |
|
863 |
13.8 |
|
865 |
14.5 |
|
866 |
14 |
S866L |
880 |
12 |
|
881 |
11.9 |
|
882 |
8.1 |
|
883 |
6 |
|
884 |
7.8 |
|
885 |
9 |
|
886 |
10.6 |
H886P H886Q H886Q |
887 |
11 |
|
888 |
13.6 |
|
889 |
14.6 |
|
1441 |
13.4 |
|
1444 |
12.6 |
|
1445 |
14.8 |
Y1445H |
1447 |
15 |
|