E1149G Summary
SCN5A E1149G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1149G is not present in gnomAD. E1149G has been functionally characterized in 0 papers. Other variants at the same resdue are E1149A .E1149D .E1149D .E1149G .E1149K .E1149Q .E1149V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1149G 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 |
0.413 |
E1149G 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 |
1134 |
14.7 |
|
1135 |
14.2 |
S1135I |
1136 |
13.7 |
|
1137 |
13.2 |
|
1138 |
12.6 |
|
1139 |
12 |
|
1140 |
11.4 |
|
1141 |
10.7 |
|
1142 |
10.1 |
|
1143 |
9.3 |
|
1144 |
8.5 |
|
1145 |
7.6 |
|
1146 |
6.6 |
|
1147 |
5.4 |
T1147N T1147S T1147S |
1148 |
3.8 |
A1148T |
1150 |
3.8 |
|
1151 |
5.4 |
|
1152 |
6.6 |
|
1153 |
7.6 |
Q1153H Q1153H |
1154 |
8.5 |
I1154N |
1155 |
9.3 |
P1155S |
1156 |
10.1 |
D1156G |
1157 |
10.7 |
|
1158 |
11.4 |
G1158S |
1159 |
12 |
|
1160 |
12.6 |
|
1161 |
13.2 |
|
1162 |
13.7 |
|
1163 |
14.2 |
|
1164 |
14.7 |
P1164T |