I126N Summary

KCNH2 I126N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I126N is not present in gnomAD. I126N 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


I126N 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.

I126N 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 0.92 -5.134 0.789 -6

I126N has 67 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
12 14.9 N12D
14 11.3
15 10 L15V
16 13.6 D16A
17 12.3
18 8 I18M
19 10 I19F
21 11.2
22 8.3 F22S F22Y
23 13.5
25 12.4 Q25P
26 14.4 S26I
27 10.9 R27P R27X
28 11.4 K28E
29 6.9 F29L F29S F29V
30 6.6 I30Del I30T
31 6.1 I31S
32 7.5 A32T
33 11.1 N33T
34 12.2 A34T
39 12.2 C39R C39X
40 12.7
41 11.2 V41A
42 10.8 I42N
43 10.1 Y43C Y43D
44 12.3 C44F C44W C44X
45 11.8 N45D N45K
47 14.5 G47C G47V
48 12.4
63 14.8 P63H
64 10.4 C64R C64Y
65 13.5 T65P
66 14 C66G C66R C66Y
82 12.9 I82Del I82dup I82Ins I82T
83 14.7 A83fsX A83P
85 11.9 A85P A85V
86 10.9 L86R
87 15 L87P
88 14.3
89 12.1 A89G A89V
90 11 E90K
91 10.4
92 12.5 R92C R92L
93 12.4 K93R K93X
94 13.7 V94A V94L
108 14.8 C108Y
109 13 L109P L109Q L109X
110 10.3 V110A
111 7.4 D111V
112 6.6 V112M
113 4.6 V113Del
114 6.4 P114S
115 7.1 V115M
116 11.4 K116Q
117 14.6
121 14 A121fsX
122 11.1
123 10.5
124 7.3 M124R M124T
125 6.1
127 4.9
128 6.9 N128S
129 9.6 F129C
130 13.9 E130K
795 13.9 V795I
797 14.9 A797T
798 12.8 I798fsX