A1058S Summary

KCNH2 A1058S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A1058S is not present in gnomAD. A1058S 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.

A1058S 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.

A1058S 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 0.542 0.068 0 2

A1058S 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
1043 14.7 D1043G
1044 14.2
1045 13.7 L1045F
1046 13.2 Q1046X
1047 12.6 R1047C R1047H R1047L
1048 12
1049 11.4
1050 10.7
1051 10.1
1052 9.3
1053 8.5 E1053fsX E1053X
1054 7.6 T1054fsX
1055 6.6 R1055Q R1055W
1056 5.4 L1056fsX
1057 3.8 S1057fsX S1057N
1059 3.8 D1059E
1060 5.4 M1060I M1060V
1061 6.6 A1061P
1062 7.6 T1062I T1062P T1062X
1063 8.5 V1063I V1063L
1064 9.3 L1064X
1065 10.1
1066 10.7
1067 11.4
1068 12 Q1068R Q1068X
1069 12.6 R1069S
1070 13.2 Q1070P Q1070X
1071 13.7 M1071V
1072 14.2 T1072M T1072S
1073 14.7 L1073P