A175P Summary

KCNH2 A175P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A175P is not present in gnomAD. A175P 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A175P 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.

A175P 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 0.327 -0.926 0 -2

A175P 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
160 14.7
161 14.2
162 13.7 T162X
163 13.2
164 12.6 R164C R164H
165 12
166 11.4
167 10.7
168 10.1
169 9.3 A169G
170 8.5 L170Ins
171 7.6 L171Ins
172 6.6 A172V
173 5.4
174 3.8
176 3.8 R176Q R176W R176X
177 5.4 E177X
178 6.6
179 7.6 S179W
180 8.5
181 9.3 R181fsX R181Q R181W
182 10.1 S182X
183 10.7 G183fsX
184 11.4 G184Del
185 12
186 12.6 G186fsX
187 13.2 G187A G187Del G187S G187X
188 13.7 A188P A188S A188X
189 14.2 G189Ins
190 14.7 A190T A190V