E58V Summary

KCNH2 E58V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E58V is not present in gnomAD. E58V 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.


E58V 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.

E58V 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 0.833 -4.302 0.049 -4

E58V has 43 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 13.9 I30Del I30T
40 13.7
41 11.2 V41A
42 14.2 I42N
43 14.1 Y43C Y43D
44 10.4 C44F C44W C44X
45 14 N45D N45K
46 14.1 D46E D46Y
47 14.6 G47C G47V
48 11.2
49 9.6 C49G C49R
50 14.3 E50X
51 13.8
52 9.6 C52W
53 8.4 G53R G53S
54 5.3 Y54N Y54X
55 4.4 S55L
56 8.8 R56Q
57 4.3 A57P
59 5.4
60 8.1 M60T
61 9.7 Q61R
62 7.5 R62Q
63 12 P63H
64 14.7 C64R C64Y
66 11.7 C66G C66R C66Y
67 12.8
68 8.3 F68L F68V
69 11.4 L69Del L69P
100 13.9 R100G R100P R100Q
101 8.7 K101E
102 13.9 D102H D102V D102X
741 14.2 K741R
803 14.2 D803X D803Y
804 13.7
854 13.7
855 13.6 S855R
856 12.9
857 8.3 E857X
858 10.8 I858T I858V
859 9.8 T859M T859R
860 11.9
861 12.5 N861H N861I