I42T Summary

KCNH2 I42T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I42T is not present in gnomAD. I42T 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.


I42T 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.

I42T 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 0.923 -3.313 0.449 -2

I42T has 78 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 11.2 N12D
13 14 T13N
14 12
15 8.9 L15V
16 12.7 D16A
17 14.7
18 12.2 I18M
19 11 I19F
22 14.7 F22S F22Y
29 10.6 F29L F29S F29V
30 7.9 I30Del I30T
31 4.9 I31S
32 5.7 A32T
33 7 N33T
34 10.7 A34T
35 11.8 R35W
36 10.2 V36X
37 14.1
38 12.8
39 9.5 C39R C39X
40 6.1
41 4.6 V41A
43 6.2 Y43C Y43D
44 7.9 C44F C44W C44X
45 11.5 N45D N45K
46 14.7 D46E D46Y
48 12.7
49 14.4 C49G C49R
55 13.9 S55L
56 9.9 R56Q
57 11.9 A57P
58 14.2 E58D E58K
59 9.6
60 6.4 M60T
61 8.5 Q61R
62 11.3 R62Q
63 11.1 P63H
64 10.3 C64R C64Y
65 14.1 T65P
66 13.6 C66G C66R C66Y
86 15 L86R
114 14.8 P114S
115 13.6 V115M
122 14.5
123 11.6
124 8.4 M124R M124T
125 10.2
126 10.8
127 11.4
785 14.7 G785D G785fsX G785S
786 11.8
787 11.2
788 8.3 E788D E788K
789 8.5
790 10.4
791 11.9 R791Q R791W
792 14.3
793 14.3 D793N
794 9.8 V794D V794I
795 6.4 V795I
796 5 V796Del V796L
797 4.6 A797T
798 5 I798fsX
799 8.8 L799sp
800 11.4
803 12.9 D803X D803Y
805 14.3 F805C F805S
819 14.2 N819K
820 14.2 G820R
821 14.7 D821E
822 13.5 V822L V822M
823 14 R823fsX R823Q R823T R823W
824 14.5
825 13.3
859 11 T859M T859R
860 9.7
861 15 N861H N861I
862 14.9 L862P