E1165D Summary
SCN5A E1165D was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1165D is present in 1 out of 240876 alleles in gnomAD (minor allele frequency of 0.000415%). E1165D has been functionally characterized in 0 papers. Other variants at the same resdue are E1165A .E1165D .E1165D .E1165G .E1165K .E1165Q .E1165V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
E1165D 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 |
Tolerated |
0.363 |
-1.6 |
benign |
0.013 |
1.825 |
1.29 |
2 |
0.249 |
E1165D 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 |
1150 |
14.7 |
|
1151 |
14.2 |
|
1152 |
13.7 |
|
1153 |
13.2 |
Q1153H Q1153H |
1154 |
12.6 |
I1154N |
1155 |
12 |
P1155S |
1156 |
11.4 |
D1156G |
1157 |
10.7 |
|
1158 |
10.1 |
G1158S |
1159 |
9.3 |
|
1160 |
8.5 |
|
1161 |
7.6 |
|
1162 |
6.6 |
|
1163 |
5.4 |
|
1164 |
3.8 |
P1164T |
1166 |
3.8 |
|
1167 |
5.4 |
|
1168 |
6.6 |
|
1169 |
7.6 |
T1169I |
1170 |
8.5 |
|
1171 |
9.3 |
|
1172 |
10.1 |
|
1173 |
10.7 |
|
1174 |
11.4 |
R1174W |
1175 |
12 |
R1175H |
1176 |
12.6 |
|
1177 |
13.2 |
P1177L |
1178 |
13.7 |
|
1179 |
14.2 |
|
1180 |
14.7 |
A1180V |