A40G Summary

KCNH2 A40G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A40G is not present in gnomAD. A40G 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.


A40G 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.

A40G 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 0.566 -1.877 0 0

A40G has 55 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
15 13.9 L15V
29 14 F29L F29S F29V
30 9.6 I30Del I30T
31 8.3 I31S
32 5.4 A32T
33 5.9 N33T
34 8.2 A34T
35 9.2 R35W
36 6.2 V36X
37 8.9
38 6.8
39 4.4 C39R C39X
41 4 V41A
42 6.1 I42N
43 11.4 Y43C Y43D
44 11.5 C44F C44W C44X
48 14.3
56 13.3 R56Q
57 12.6 A57P
58 13.7 E58D E58K
59 9.4
60 7.6 M60T
61 6.6 Q61R
62 7.8 R62Q
63 6.1 P63H
64 6.7 C64R C64Y
65 9.9 T65P
66 10.5 C66G C66R C66Y
67 13
68 13 F68L F68V
82 14.8 I82Del I82dup I82Ins I82T
83 14.2 A83fsX A83P
86 11.7 L86R
87 14.8 L87P
114 15 P114S
122 13.5
123 12.1
124 9.7 M124R M124T
125 9.3
126 12.7
127 11.7
788 13.3 E788D E788K
789 11.8
790 12.8
791 11.1 R791Q R791W
792 14.3
794 10 V794D V794I
795 8.9 V795I
796 6.7 V796Del V796L
797 9.2 A797T
798 11 I798fsX
799 14 L799sp
819 14 N819K
859 13.8 T859M T859R
860 11.5