F163C Summary

KCNH2 F163C was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F163C is not present in gnomAD. F163C 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


F163C 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.

F163C 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 0.742 -3.519 0.998 -4

F163C 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
148 14.7 R148fsX R148Q R148W R148Y
149 14.2 G149A G149V
150 13.7 P150L
151 13.2 P151fsX P151X
152 12.6 T152fsX T152I T152S T152X
153 12 S153R
154 11.4 W154R W154X
155 10.7
156 10.1
157 9.3 P157X
158 8.5
159 7.6
160 6.6
161 5.4
162 3.8 T162X
164 3.8 R164C R164H
165 5.4
166 6.6
167 7.6
168 8.5
169 9.3 A169G
170 10.1 L170Ins
171 10.7 L171Ins
172 11.4 A172V
173 12
174 12.6
175 13.2 A175D A175S A175X
176 13.7 R176Q R176W R176X
177 14.2 E177X
178 14.7