E134G Summary

KCNH2 E134G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E134G is not present in gnomAD. E134G 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.


E134G 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.

E134G 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 0.632 -1.992 0.001 -3

E134G 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
119 14.7 D119G D119H
120 14.2
121 13.7 A121fsX
122 13.2
123 12.6
124 12 M124R M124T
125 11.4
126 10.7
127 10.1
128 9.3 N128S
129 8.5 F129C
130 7.6 E130K
131 6.6 V131fsX V131L
132 5.4 V132X
133 3.8 M133T
135 3.8
136 5.4
137 6.6
138 7.6
139 8.5 G139A G139R
140 9.3 S140Y
141 10.1 P141fsX P141L P141S
142 10.7 A142T
143 11.4
144 12 D144V
145 12.6
146 13.2 N146X
147 13.7 H147R H147X
148 14.2 R148fsX R148Q R148W R148Y
149 14.7 G149A G149V