A1077S Summary

KCNH2 A1077S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A1077S is not present in gnomAD. A1077S 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.


A1077S 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.

A1077S 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 0.575 -1.864 0.84 0

A1077S 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
1062 14.7 T1062I T1062P T1062X
1063 14.2 V1063I V1063L
1064 13.7 L1064X
1065 13.2
1066 12.6
1067 12
1068 11.4 Q1068R Q1068X
1069 10.7 R1069S
1070 10.1 Q1070P Q1070X
1071 9.3 M1071V
1072 8.5 T1072M T1072S
1073 7.6 L1073P
1074 6.6
1075 5.4 P1075L
1076 3.8
1078 3.8 Y1078C
1079 5.4 S1079N
1080 6.6
1081 7.6
1082 8.5
1083 9.3 T1083A T1083fsX
1084 10.1 P1084L P1084R P1084X
1085 10.7 G1085X
1086 11.4 P1086fsX P1086X
1087 12 G1087X
1088 12.6
1089 13.2 T1089A T1089I
1090 13.7 S1090F
1091 14.2
1092 14.7 S1092F