D67E Summary

KCNH2 D67E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D67E is not present in gnomAD. D67E 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.


D67E 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.

D67E 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 0.563 -1.738 0.013 1

D67E has 41 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
30 14.4 I30Del I30T
38 11.6
39 12.5 C39R C39X
40 13
41 12.7 V41A
48 14.6
52 13.4 C52W
54 12 Y54N Y54X
58 12.8 E58D E58K
59 11.4
60 14.6 M60T
61 14.1 Q61R
62 8.4 R62Q
63 6.9 P63H
64 9.1 C64R C64Y
65 5.9 T65P
66 5 C66G C66R C66Y
68 5.4 F68L F68V
69 6.8 L69Del L69P
70 5.4 H70Q H70R
71 9.2 G71E G71R G71W
72 12.5 P72Q P72R P72S P72T
73 13.7 R73C R73fsX R73G R73H
74 10.7 T74fsX T74M
75 13.6 Q75X
76 12.2
77 14.4 R77S
78 12.9 A78P A78T
79 9.8 A79Del A79fsX A79S A79T
80 12.3 A80P
82 11.2 I82Del I82dup I82Ins I82T
83 11.7 A83fsX A83P
86 14.3 L86R
96 12.4 I96T I96V
97 12.9
98 10.3
99 11.8 Y99N Y99S
100 15 R100G R100P R100Q
101 14 K101E
110 14.8 V110A
127 14.4