E23D Summary

KCNH2 E23D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E23D is not present in gnomAD. E23D 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


E23D 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.

E23D 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 0.437 -0.686 0 3

E23D has 33 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 13.1 L15V
16 10.3 D16A
17 10.2
18 9.3 I18M
19 6.6 I19F
20 6.8 R20G R20L
21 6.7
22 5.8 F22S F22Y
24 3.5
25 5.9 Q25P
26 5.9 S26I
27 6.4 R27P R27X
28 10.7 K28E
29 8.8 F29L F29S F29V
30 13.6 I30Del I30T
31 13.8 I31S
43 11 Y43C Y43D
44 12.9 C44F C44W C44X
45 8.9 N45D N45K
46 10.3 D46E D46Y
47 10.6 G47C G47V
48 13.8
49 14.8 C49G C49R
50 14.1 E50X
126 13.5
128 12 N128S
129 14.3 F129C
130 14.6 E130K
785 13 G785D G785fsX G785S
786 13.6
798 14.2 I798fsX
800 13.1
801 11.7 K801T