I123F Summary

KCNH2 I123F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I123F is not present in gnomAD. I123F 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 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


I123F 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.

I123F 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 0.827 -2.609 0.166 3

I123F has 51 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
11 11.7 Q11H Q11L
12 10 N12D
13 13.2 T13N
14 8.9
15 10 L15V
17 14.6
18 12.4 I18M
30 14.1 I30Del I30T
31 10.4 I31S
32 8.4 A32T
33 6.4 N33T
34 5.9 A34T
35 7.7 R35W
36 10.1 V36X
37 14.3
38 14.8
39 10.7 C39R C39X
40 12.1
41 13.6 V41A
42 11.6 I42N
64 13.6 C64R C64Y
85 14.1 A85P A85V
86 11.5 L86R
87 12.9 L87P
88 13
89 11.3 A89G A89V
90 13.3 E90K
112 13.6 V112M
113 11.5 V113Del
114 8.6 P114S
115 6 V115M
116 7 K116Q
117 7
118 10.9 E118D E118K E118X
119 10.4 D119G D119H
120 8.9
121 5.7 A121fsX
122 4.4
124 4 M124R M124T
125 7.4
126 10.5
127 13.7
788 14 E788D E788K
790 14.3
792 14.3
793 12.5 D793N
794 10.5 V794D V794I
795 9.2 V795I
796 12.6 V796Del V796L
797 14.1 A797T
798 14.2 I798fsX