E130G Summary

KCNH2 E130G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E130G is not present in gnomAD. E130G has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


E130G 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.

E130G 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 0.908 -4.063 0.848 -4

E130G has 37 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
22 12.3 F22S F22Y
23 14.6
24 14.4
25 11.1 Q25P
26 9.8 S26I
27 8.4 R27P R27X
28 6.1 K28E
29 11.3 F29L F29S F29V
30 13.3 I30Del I30T
45 13.1 N45D N45K
47 10.8 G47C G47V
48 11.4
49 14.7 C49G C49R
50 12.8 E50X
51 9.7
52 13.6 C52W
93 10.6 K93R K93X
94 12.1 V94A V94L
95 10.9 E95G E95K
96 12.2 I96T I96V
97 12.8
98 11.8
100 13.8 R100G R100P R100Q
105 14.2
106 10.1 F106L F106V
107 9.2 L107P
108 6.3 C108Y
109 6 L109P L109Q L109X
110 9.1 V110A
111 9.3 D111V
112 13.2 V112M
113 14.3 V113Del
126 13.9
127 11.6
128 7 N128S
129 6.4 F129C
131 4 V131fsX V131L