D1163G Summary
SCN5A D1163G was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1163G is present in 1 out of 239814 alleles in gnomAD (minor allele frequency of 0.000417%). D1163G has been functionally characterized in 0 papers. Other variants at the same resdue are D1163A .D1163E .D1163E .D1163G .D1163H .D1163N .D1163V .D1163Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
D1163G 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 |
Damaging |
0.01 |
-3.83 |
benign |
0.042 |
3.523 |
-1.81 |
-3 |
0.627 |
D1163G 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 |
1148 |
14.7 |
A1148T |
1149 |
14.2 |
|
1150 |
13.7 |
|
1151 |
13.2 |
|
1152 |
12.6 |
|
1153 |
12 |
Q1153H Q1153H |
1154 |
11.4 |
I1154N |
1155 |
10.7 |
P1155S |
1156 |
10.1 |
D1156G |
1157 |
9.3 |
|
1158 |
8.5 |
G1158S |
1159 |
7.6 |
|
1160 |
6.6 |
|
1161 |
5.4 |
|
1162 |
3.8 |
|
1164 |
3.8 |
P1164T |
1165 |
5.4 |
|
1166 |
6.6 |
|
1167 |
7.6 |
|
1168 |
8.5 |
|
1169 |
9.3 |
T1169I |
1170 |
10.1 |
|
1171 |
10.7 |
|
1172 |
11.4 |
|
1173 |
12 |
|
1174 |
12.6 |
R1174W |
1175 |
13.2 |
R1175H |
1176 |
13.7 |
|
1177 |
14.2 |
P1177L |
1178 |
14.7 |
|