A1124G Summary

KCNH2 A1124G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A1124G is not present in gnomAD. A1124G 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.


A1124G 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.

A1124G 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 0.422 -0.853 0 -1

A1124G 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
1109 14.7
1110 14.2 Q1110P
1111 13.7 V1111F
1112 13.2
1113 12.6
1114 12
1115 11.4 M1115T
1116 10.7 A1116V
1117 10.1 C1117fsX
1118 9.3
1119 8.5 E1119Q E1119V
1120 7.6
1121 6.6
1122 5.4 P1122fsX P1122L P1122R
1123 3.8 G1123R
1125 3.8 P1125A P1125X
1126 5.4 E1126fsX
1127 6.6
1128 7.6
1129 8.5
1130 9.3
1131 10.1 G1131V
1132 10.7 P1132A
1133 11.4
1134 12 R1134X
1135 12.6 R1135C R1135H
1136 13.2 L1136I
1137 13.7
1138 14.2
1139 14.7 P1139L