E177D Summary

KCNH2 E177D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E177D is not present in gnomAD. E177D has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.

E177D 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.

E177D 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 0.254 -1.194 0.037 -1

E177D 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
162 14.7 T162X
163 14.2
164 13.7 R164C R164H
165 13.2
166 12.6
167 12
168 11.4
169 10.7 A169G
170 10.1 L170Ins
171 9.3 L171Ins
172 8.5 A172V
173 7.6
174 6.6
175 5.4 A175D A175S A175X
176 3.8 R176Q R176W R176X
178 3.8
179 5.4 S179W
180 6.6
181 7.6 R181fsX R181Q R181W
182 8.5 S182X
183 9.3 G183fsX
184 10.1 G184Del
185 10.7
186 11.4 G186fsX
187 12 G187A G187Del G187S G187X
188 12.6 A188P A188S A188X
189 13.2 G189Ins
190 13.7 A190T A190V
191 14.2 P191fsX P191Q
192 14.7 G192fsX