E1119A Summary

KCNH2 E1119A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E1119A is not present in gnomAD. E1119A 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.


E1119A 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.

E1119A 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 0.517 -1.14 0.993 -1

E1119A 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
1104 14.7 T1104I
1105 14.2 L1105S
1106 13.7
1107 13.2 S1107L
1108 12.6 L1108V
1109 12
1110 11.4 Q1110P
1111 10.7 V1111F
1112 10.1
1113 9.3
1114 8.5
1115 7.6 M1115T
1116 6.6 A1116V
1117 5.4 C1117fsX
1118 3.8
1120 3.8
1121 5.4
1122 6.6 P1122fsX P1122L P1122R
1123 7.6 G1123R
1124 8.5
1125 9.3 P1125A P1125X
1126 10.1 E1126fsX
1127 10.7
1128 11.4
1129 12
1130 12.6
1131 13.2 G1131V
1132 13.7 P1132A
1133 14.2
1134 14.7 R1134X