E1126A Summary

KCNH2 E1126A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E1126A is not present in gnomAD. E1126A 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.


E1126A 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.

E1126A 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 0.578 -1.311 0.993 -2

E1126A 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
1111 14.7 V1111F
1112 14.2
1113 13.7
1114 13.2
1115 12.6 M1115T
1116 12 A1116V
1117 11.4 C1117fsX
1118 10.7
1119 10.1 E1119Q E1119V
1120 9.3
1121 8.5
1122 7.6 P1122fsX P1122L P1122R
1123 6.6 G1123R
1124 5.4
1125 3.8 P1125A P1125X
1127 3.8
1128 5.4
1129 6.6
1130 7.6
1131 8.5 G1131V
1132 9.3 P1132A
1133 10.1
1134 10.7 R1134X
1135 11.4 R1135C R1135H
1136 12 L1136I
1137 12.6
1138 13.2
1139 13.7 P1139L
1140 14.2
1141 14.7