D883A Summary
SCN5A D883A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D883A is not present in gnomAD. D883A has been functionally characterized in 0 papers. Other variants at the same resdue are D883A .D883E .D883E .D883G .D883H .D883N .D883V .D883Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D883A 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 |
0.967 |
D883A has 53 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 |
| 146 |
14.3 |
V146A V146M |
| 147 |
14.7 |
|
| 148 |
12.1 |
|
| 149 |
9 |
|
| 150 |
11.3 |
|
| 151 |
10.4 |
|
| 152 |
6 |
D152N |
| 153 |
10.1 |
|
| 154 |
11.4 |
|
| 155 |
14.6 |
|
| 156 |
14.4 |
|
| 850 |
14.4 |
V850M |
| 851 |
12.7 |
F851L F851L F851L |
| 854 |
9.7 |
|
| 855 |
10.2 |
|
| 856 |
13 |
|
| 857 |
10.5 |
G857D |
| 858 |
7 |
M858L M858L |
| 859 |
11.9 |
|
| 860 |
14.2 |
|
| 861 |
12.8 |
|
| 862 |
9.6 |
|
| 863 |
13.1 |
|
| 864 |
13.9 |
|
| 865 |
10.5 |
|
| 866 |
12.3 |
S866L |
| 875 |
14.2 |
|
| 876 |
10.9 |
|
| 877 |
11.4 |
|
| 878 |
13.6 |
R878C R878H |
| 879 |
11 |
W879R W879R |
| 880 |
6.4 |
|
| 881 |
7.5 |
|
| 882 |
5.1 |
|
| 884 |
5.8 |
|
| 885 |
5.9 |
|
| 886 |
4.7 |
H886P H886Q H886Q |
| 887 |
6.4 |
|
| 888 |
9.7 |
|
| 889 |
9.4 |
|
| 890 |
10.1 |
I890T |
| 891 |
12.5 |
|
| 892 |
14.4 |
F892I |
| 902 |
14.8 |
|
| 1429 |
13.7 |
|
| 1440 |
11.8 |
|
| 1441 |
10.1 |
|
| 1442 |
14 |
|
| 1443 |
14.1 |
N1443S |
| 1444 |
8.9 |
|
| 1445 |
13 |
Y1445H |
| 1447 |
11.3 |
|
| 1448 |
14.8 |
I1448L |