G1123V Summary

KCNH2 G1123V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G1123V is not present in gnomAD. G1123V 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.


G1123V 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.

G1123V 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 0.6 -1.988 0.994 -1

G1123V 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
1108 14.7 L1108V
1109 14.2
1110 13.7 Q1110P
1111 13.2 V1111F
1112 12.6
1113 12
1114 11.4
1115 10.7 M1115T
1116 10.1 A1116V
1117 9.3 C1117fsX
1118 8.5
1119 7.6 E1119Q E1119V
1120 6.6
1121 5.4
1122 3.8 P1122fsX P1122L P1122R
1124 3.8
1125 5.4 P1125A P1125X
1126 6.6 E1126fsX
1127 7.6
1128 8.5
1129 9.3
1130 10.1
1131 10.7 G1131V
1132 11.4 P1132A
1133 12
1134 12.6 R1134X
1135 13.2 R1135C R1135H
1136 13.7 L1136I
1137 14.2
1138 14.7