D1106Y Summary

KCNH2 D1106Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D1106Y is not present in gnomAD. D1106Y 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.


D1106Y 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.

D1106Y 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 0.56 -2.448 0 -2

D1106Y 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
1091 14.7
1092 14.2 S1092F
1093 13.7 P1093L P1093R
1094 13.2 L1094M
1095 12.6
1096 12
1097 11.4 V1097I
1098 10.7 S1098R
1099 10.1 P1099L
1100 9.3
1101 8.5 P1101fsX
1102 7.6
1103 6.6 L1103P
1104 5.4 T1104I
1105 3.8 L1105S
1107 3.8 S1107L
1108 5.4 L1108V
1109 6.6
1110 7.6 Q1110P
1111 8.5 V1111F
1112 9.3
1113 10.1
1114 10.7
1115 11.4 M1115T
1116 12 A1116V
1117 12.6 C1117fsX
1118 13.2
1119 13.7 E1119Q E1119V
1120 14.2
1121 14.7