G1143V Summary

KCNH2 G1143V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G1143V is not present in gnomAD. G1143V 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.


G1143V 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.

G1143V 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 0.622 -2.34 0.994 -1

G1143V 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
1128 14.7
1129 14.2
1130 13.7
1131 13.2 G1131V
1132 12.6 P1132A
1133 12
1134 11.4 R1134X
1135 10.7 R1135C R1135H
1136 10.1 L1136I
1137 9.3
1138 8.5
1139 7.6 P1139L
1140 6.6
1141 5.4
1142 3.8
1144 3.8 A1144T
1145 5.4
1146 6.6 T1146A T1146I T1146S
1147 7.6
1148 8.5
1149 9.3
1150 10.1 L1150M L1150P L1150R
1151 10.7 H1151Q H1151X
1152 11.4
1153 12 H1153P H1153Y
1154 12.6
1155 13.2 S1155L
1156 13.7
1157 14.2 P1157L
1158 14.7