I82dup Summary

KCNH2 I82dup was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. I82dup is not present in gnomAD. I82dup has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


I82dup Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
23098067 2012 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

I82dup 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 NA NA NA NA

I82dup has 52 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
30 12.8 I30Del I30T
32 13.1 A32T
38 14.2
39 12 C39R C39X
40 14.8
41 14.8 V41A
63 11.7 P63H
64 8.3 C64R C64Y
65 6.6 T65P
66 9.2 C66G C66R C66Y
67 11.2
68 13.8 F68L F68V
69 11.8 L69Del L69P
70 10.3 H70Q H70R
71 14.2 G71E G71R G71W
74 11.9 T74fsX T74M
75 11.5 Q75X
76 10.4
77 9.3 R77S
78 6.9 A78P A78T
79 5.1 A79Del A79fsX A79S A79T
80 5.5 A80P
81 5.4 Q81E Q81H Q81P Q81X
83 4.5 A83fsX A83P
84 6.9
85 5.9 A85P A85V
86 6.9 L86R
87 10.1 L87P
88 11.2
89 12 A89G A89V
90 10.9 E90K
91 12.3
92 8 R92C R92L
93 11.2 K93R K93X
94 6.5 V94A V94L
95 10.9 E95G E95K
96 8.6 I96T I96V
97 12.2
98 10.7
107 14.9 L107P
108 12 C108Y
109 11.3 L109P L109Q L109X
110 7.3 V110A
111 10.6 D111V
112 7.8 V112M
113 12.2 V113Del
114 12.5 P114S
125 10.7
126 12.9
127 9.4
128 13 N128S
129 11.7 F129C