G103E Summary

KCNH2 G103E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G103E is not present in gnomAD. G103E 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.

G103E 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.

G103E 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 NA -4.33 0.058 -2

G103E has 22 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
51 11.5
52 10.2 C52W
53 10.6 G53R G53S
54 10.9 Y54N Y54X
68 12.3 F68L F68V
69 10.7 L69Del L69P
70 12.5 H70Q H70R
71 10.2 G71E G71R G71W
72 10.4 P72Q P72R P72S P72T
73 11.7 R73C R73fsX R73G R73H
74 13.1 T74fsX T74M
97 11.4
98 11.1
99 5.8 Y99N Y99S
100 5.6 R100G R100P R100Q
101 7.4 K101E
102 3.9 D102H D102V D102X
104 3.3
105 6.6
106 9.2 F106L F106V
107 13.8 L107P
108 14.9 C108Y