E1130Q Summary
SCN5A E1130Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1130Q is not present in gnomAD. E1130Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1130A .E1130D .E1130D .E1130G .E1130K .E1130Q .E1130V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1130Q 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 |
0.548 |
E1130Q 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 |
1115 |
14.7 |
|
1116 |
14.2 |
R1116Q R1116W |
1117 |
13.7 |
|
1118 |
13.2 |
|
1119 |
12.6 |
|
1120 |
12 |
|
1121 |
11.4 |
A1121V |
1122 |
10.7 |
|
1123 |
10.1 |
|
1124 |
9.3 |
|
1125 |
8.5 |
A1125G A1125V |
1126 |
7.6 |
|
1127 |
6.6 |
|
1128 |
5.4 |
|
1129 |
3.8 |
G1129S |
1131 |
3.8 |
T1131I |
1132 |
5.4 |
|
1133 |
6.6 |
|
1134 |
7.6 |
|
1135 |
8.5 |
S1135I |
1136 |
9.3 |
|
1137 |
10.1 |
|
1138 |
10.7 |
|
1139 |
11.4 |
|
1140 |
12 |
|
1141 |
12.6 |
|
1142 |
13.2 |
|
1143 |
13.7 |
|
1144 |
14.2 |
|
1145 |
14.7 |
|