F1114S Summary

KCNH2 F1114S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F1114S is not present in gnomAD. F1114S 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.


F1114S 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.

F1114S 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 0.579 -0.588 0.967 1

F1114S 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
1099 14.7 P1099L
1100 14.2
1101 13.7 P1101fsX
1102 13.2
1103 12.6 L1103P
1104 12 T1104I
1105 11.4 L1105S
1106 10.7
1107 10.1 S1107L
1108 9.3 L1108V
1109 8.5
1110 7.6 Q1110P
1111 6.6 V1111F
1112 5.4
1113 3.8
1115 3.8 M1115T
1116 5.4 A1116V
1117 6.6 C1117fsX
1118 7.6
1119 8.5 E1119Q E1119V
1120 9.3
1121 10.1
1122 10.7 P1122fsX P1122L P1122R
1123 11.4 G1123R
1124 12
1125 12.6 P1125A P1125X
1126 13.2 E1126fsX
1127 13.7
1128 14.2
1129 14.7