G1154D Summary

KCNH2 G1154D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G1154D is not present in gnomAD. G1154D 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.


G1154D 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.

G1154D 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 0.564 -1.717 0.987 -3

G1154D has 20 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
1139 14.7 P1139L
1140 14.2
1141 13.7
1142 13.2
1143 12.6
1144 12 A1144T
1145 11.4
1146 10.7 T1146A T1146I T1146S
1147 10.1
1148 9.3
1149 8.5
1150 7.6 L1150M L1150P L1150R
1151 6.6 H1151Q H1151X
1152 5.4
1153 3.8 H1153P H1153Y
1155 3.8 S1155L
1156 5.4
1157 6.6 P1157L
1158 7.6
1159 8.5