G88D Summary

KCNH2 G88D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G88D is not present in gnomAD. G88D 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


G88D 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.

G88D 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 0.771 -4.475 0.602 -2

G88D 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
32 14.6 A32T
34 12.2 A34T
39 13.7 C39R C39X
64 14 C64R C64Y
65 14.9 T65P
80 12.6 A80P
81 11.9 Q81E Q81H Q81P Q81X
82 11.2 I82Del I82dup I82Ins I82T
83 9.2 A83fsX A83P
84 7.6
85 5.4 A85P A85V
86 6.7 L86R
87 4.7 L87P
89 3.2 A89G A89V
90 5.7 E90K
91 10.8
92 7.8 R92C R92L
93 14.8 K93R K93X
94 14 V94A V94L
111 14.3 D111V
112 10.3 V112M
113 11.6 V113Del
114 8.9 P114S
115 12.4 V115M
116 10.9 K116Q
120 12.3
121 11 A121fsX
122 8.8
123 13
124 13.9 M124R M124T
125 10.3
126 14.3
127 14.7