G139E Summary

KCNH2 G139E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G139E is not present in gnomAD. G139E 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.

G139E 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.

G139E 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 0.399 -0.315 0.207 0

G139E 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
124 14.7 M124R M124T
125 14.2
126 13.7
127 13.2
128 12.6 N128S
129 12 F129C
130 11.4 E130K
131 10.7 V131fsX V131L
132 10.1 V132X
133 9.3 M133T
134 8.5 E134X
135 7.6
136 6.6
137 5.4
138 3.8
140 3.8 S140Y
141 5.4 P141fsX P141L P141S
142 6.6 A142T
143 7.6
144 8.5 D144V
145 9.3
146 10.1 N146X
147 10.7 H147R H147X
148 11.4 R148fsX R148Q R148W R148Y
149 12 G149A G149V
150 12.6 P150L
151 13.2 P151fsX P151X
152 13.7 T152fsX T152I T152S T152X
153 14.2 S153R
154 14.7 W154R W154X