I30Del Summary

KCNH2 I30Del was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. I30Del is not present in gnomAD. I30Del 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


I30Del Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
24606995 2014 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

I30Del 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

I30Del has 77 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
14 14.8
15 11.8 L15V
16 14.7 D16A
18 11.4 I18M
19 10.4 I19F
21 14.5
22 10.6 F22S F22Y
23 13.6
25 14.2 Q25P
26 13.9 S26I
27 10.2 R27P R27X
28 8.9 K28E
29 4.9 F29L F29S F29V
31 4.6 I31S
32 6.9 A32T
33 11.3 N33T
34 13.6 A34T
36 14.7 V36X
38 14.9
39 11 C39R C39X
40 9.6
41 6.6 V41A
42 7.9 I42N
43 6.5 Y43C Y43D
44 6.7 C44F C44W C44X
45 7.6 N45D N45K
46 11.9 D46E D46Y
47 10.2 G47C G47V
48 6.7
49 10.6 C49G C49R
50 13.8 E50X
51 11.8
52 11.5 C52W
53 13.9 G53R G53S
54 13.1 Y54N Y54X
55 12.9 S55L
56 10.6 R56Q
57 13.6 A57P
58 13.9 E58D E58K
59 8.7
60 9.5 M60T
61 12.9 Q61R
62 11.8 R62Q
63 10.7 P63H
64 7.8 C64R C64Y
65 10.7 T65P
66 9.5 C66G C66R C66Y
67 14.4
68 12.3 F68L F68V
69 11.8 L69Del L69P
82 12.8 I82Del I82dup I82Ins I82T
85 14.4 A85P A85V
86 12.6 L86R
94 14.6 V94A V94L
98 12.8
108 13.1 C108Y
109 13.4 L109P L109Q L109X
110 10.5 V110A
111 10.5 D111V
112 10.2 V112M
113 10.6 V113Del
114 12.2 P114S
115 13 V115M
123 14.1
124 10.3 M124R M124T
125 8.7
126 6.6
127 4.6
128 7.9 N128S
129 7.5 F129C
130 13.3 E130K
795 13.5 V795I
796 12.8 V796Del V796L
797 12.2 A797T
798 10.4 I798fsX
799 13.9 L799sp
800 14.5