I19N Summary

KCNH2 I19N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I19N is not present in gnomAD. I19N 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.


I19N 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.

I19N 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 0.874 -4.029 0.77 -4

I19N has 57 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 14.9
12 12.3 N12D
13 10.4 T13N
14 9.5
15 6.6 L15V
16 5.3 D16A
17 6.2
18 4.7 I18M
20 6.6 R20G R20L
21 7.2
22 6.2 F22S F22Y
23 6.6
24 9.6
25 10.1 Q25P
26 11.3 S26I
27 9.5 R27P R27X
28 12.6 K28E
29 7.2 F29L F29S F29V
30 10.4 I30Del I30T
31 8.6 I31S
32 12.8 A32T
41 13.8 V41A
42 11 I42N
43 6.7 Y43C Y43D
44 10.2 C44F C44W C44X
45 8.6 N45D N45K
46 11.6 D46E D46Y
47 12.5 G47C G47V
48 13.4
49 15 C49G C49R
56 12.9 R56Q
60 14.8 M60T
113 13.6 V113Del
115 13.1 V115M
124 12.1 M124R M124T
125 14.5
126 10
127 12.7
128 12.1 N128S
129 14.4 F129C
784 14.8 R784G R784Q R784W
785 10.3 G785D G785fsX G785S
786 9
787 12.5
788 11.6 E788D E788K
795 13.9 V795I
797 12.4 A797T
798 8.5 I798fsX
799 11.6 L799sp
800 10
801 11 K801T
802 14.8
803 14 D803X D803Y
824 14.5
825 11.2
826 11.9 T826A T826I
828 14.4