H143L Summary

KCNH2 H143L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H143L is not present in gnomAD. H143L 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.

H143L 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.

H143L 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 0.304 -0.9 0.002 -2

H143L 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
128 14.7 N128S
129 14.2 F129C
130 13.7 E130K
131 13.2 V131fsX V131L
132 12.6 V132X
133 12 M133T
134 11.4 E134X
135 10.7
136 10.1
137 9.3
138 8.5
139 7.6 G139A G139R
140 6.6 S140Y
141 5.4 P141fsX P141L P141S
142 3.8 A142T
144 3.8 D144V
145 5.4
146 6.6 N146X
147 7.6 H147R H147X
148 8.5 R148fsX R148Q R148W R148Y
149 9.3 G149A G149V
150 10.1 P150L
151 10.7 P151fsX P151X
152 11.4 T152fsX T152I T152S T152X
153 12 S153R
154 12.6 W154R W154X
155 13.2
156 13.7
157 14.2 P157X
158 14.7