G1140D Summary

KCNH2 G1140D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G1140D is not present in gnomAD. G1140D 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.


G1140D 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.

G1140D 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 0.476 -0.056 1 1

G1140D 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
1125 14.7 P1125A P1125X
1126 14.2 E1126fsX
1127 13.7
1128 13.2
1129 12.6
1130 12
1131 11.4 G1131V
1132 10.7 P1132A
1133 10.1
1134 9.3 R1134X
1135 8.5 R1135C R1135H
1136 7.6 L1136I
1137 6.6
1138 5.4
1139 3.8 P1139L
1141 3.8
1142 5.4
1143 6.6
1144 7.6 A1144T
1145 8.5
1146 9.3 T1146A T1146I T1146S
1147 10.1
1148 10.7
1149 11.4
1150 12 L1150M L1150P L1150R
1151 12.6 H1151Q H1151X
1152 13.2
1153 13.7 H1153P H1153Y
1154 14.2
1155 14.7 S1155L