E1130A Summary

KCNH2 E1130A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E1130A is not present in gnomAD. E1130A has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


E1130A Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

E1130A 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.

PAM Score REVEL Score PROVEAN Score Polyphen2 Score BLAST-PSSM
NA 0.377 -0.663 0.001 -1

E1130A has 30 neighbors (found in individuals) within 15 ångströms

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. NOTE: some residues appear multiple times at different distances. This results from the fact that the functional Kv11.1 channel is a homotetramer and occasionally the same residue from multiple subunits is present within the 15A window. All variants shown in the rightmost column have been observed in at least one individual in the literature or gnomAD.

ResidueNumber Distance(Å) Variants
1115 14.7 M1115T
1116 14.2 A1116V
1117 13.7 C1117fsX
1118 13.2
1119 12.6 E1119Q E1119V
1120 12
1121 11.4
1122 10.7 P1122fsX P1122L P1122R
1123 10.1 G1123R
1124 9.3
1125 8.5 P1125A P1125X
1126 7.6 E1126fsX
1127 6.6
1128 5.4
1129 3.8
1131 3.8 G1131V
1132 5.4 P1132A
1133 6.6
1134 7.6 R1134X
1135 8.5 R1135C R1135H
1136 9.3 L1136I
1137 10.1
1138 10.7
1139 11.4 P1139L
1140 12
1141 12.6
1142 13.2
1143 13.7
1144 14.2 A1144T
1145 14.7