I18F Summary

KCNH2 I18F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I18F is not present in gnomAD. I18F has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


I18F 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.

I18F 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 0.664 -2.352 0 -1

I18F 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
10 14.1
11 14.5 Q11H Q11L
12 11.2 N12D
13 9.3 T13N
14 6.7
15 5.6 L15V
16 6.5 D16A
17 4.4
19 4.7 I19F
20 8.4 R20G R20L
21 5.8
22 6 F22S F22Y
23 9.3
24 11.1
25 10.3 Q25P
26 13.2 S26I
27 11.2 R27P R27X
28 14.2 K28E
29 8.7 F29L F29S F29V
30 11.4 I30Del I30T
31 8.9 I31S
32 12.1 A32T
33 14.2 N33T
42 12.2 I42N
43 9.8 Y43C Y43D
44 13.5 C44F C44W C44X
45 12.1 N45D N45K
111 13.7 D111V
112 14.2 V112M
113 10.6 V113Del
114 11.9 P114S
115 9.1 V115M
116 13.4 K116Q
117 14.3
122 15
123 12.4
124 9.9 M124R M124T
125 12.5
126 8
127 12.1
128 11.7 N128S
129 15 F129C
785 14 G785D G785fsX G785S
786 12
788 13.1 E788D E788K
795 13.8 V795I
797 14.3 A797T
798 11 I798fsX
800 14.3
825 12.5
826 14.1 T826A T826I