A1144V Summary

KCNH2 A1144V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A1144V is not present in gnomAD. A1144V 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.


A1144V 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.

A1144V 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 0.497 -1.318 0 0

A1144V 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
1129 14.7
1130 14.2
1131 13.7 G1131V
1132 13.2 P1132A
1133 12.6
1134 12 R1134X
1135 11.4 R1135C R1135H
1136 10.7 L1136I
1137 10.1
1138 9.3
1139 8.5 P1139L
1140 7.6
1141 6.6
1142 5.4
1143 3.8
1145 3.8
1146 5.4 T1146A T1146I T1146S
1147 6.6
1148 7.6
1149 8.5
1150 9.3 L1150M L1150P L1150R
1151 10.1 H1151Q H1151X
1152 10.7
1153 11.4 H1153P H1153Y
1154 12
1155 12.6 S1155L
1156 13.2
1157 13.7 P1157L
1158 14.2
1159 14.7