E1078Q Summary
SCN5A E1078Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1078Q is not present in gnomAD. E1078Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1078A .E1078D .E1078D .E1078G .E1078K .E1078Q .E1078V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
E1078Q 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 |
0.431 |
E1078Q 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 |
1063 |
14.7 |
|
1064 |
14.2 |
p.E1064del |
1065 |
13.7 |
|
1066 |
13.2 |
S1066G |
1067 |
12.6 |
|
1068 |
12 |
G1068D |
1069 |
11.4 |
T1069M |
1070 |
10.7 |
|
1071 |
10.1 |
E1071K |
1072 |
9.3 |
p.E1072del |
1073 |
8.5 |
|
1074 |
7.6 |
|
1075 |
6.6 |
|
1076 |
5.4 |
|
1077 |
3.8 |
|
1079 |
3.8 |
S1079F S1079T |
1080 |
5.4 |
|
1081 |
6.6 |
|
1082 |
7.6 |
V1082A |
1083 |
8.5 |
|
1084 |
9.3 |
G1084S |
1085 |
10.1 |
|
1086 |
10.7 |
|
1087 |
11.4 |
|
1088 |
12 |
A1088T |
1089 |
12.6 |
|
1090 |
13.2 |
P1090L |
1091 |
13.7 |
|
1092 |
14.2 |
|
1093 |
14.7 |
|