G184Del Summary

KCNH2 G184Del was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. G184Del is not present in gnomAD. G184Del has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


G184Del Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
24606995 2014 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G184Del 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 NA NA NA NA

G184Del 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
169 14.7 A169G
170 14.2 L170Ins
171 13.7 L171Ins
172 13.2 A172V
173 12.6
174 12
175 11.4 A175D A175S A175X
176 10.7 R176Q R176W R176X
177 10.1 E177X
178 9.3
179 8.5 S179W
180 7.6
181 6.6 R181fsX R181Q R181W
182 5.4 S182X
183 3.8 G183fsX
185 3.8
186 5.4 G186fsX
187 6.6 G187A G187Del G187S G187X
188 7.6 A188P A188S A188X
189 8.5 G189Ins
190 9.3 A190T A190V
191 10.1 P191fsX P191Q
192 10.7 G192fsX
193 11.4 A193fsX A193T A193V A193X
194 12 V194M
195 12.6
196 13.2
197 13.7 D197N D197Y
198 14.2 V198L
199 14.7