G71R Summary

KCNH2 G71R was found in 1 paper (see below) with a total of 5 carriers: 4 had LQT2. G71R is not present in gnomAD. G71R 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


G71R Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Japan Cohort 2020 3 0 3
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G71R 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
-9 0.914 -5.338 0.999 -3

G71R has 32 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
52 13.8 C52W
54 14 Y54N Y54X
65 12.7 T65P
66 11.1 C66G C66R C66Y
67 9.2
68 10 F68L F68V
69 7.9 L69Del L69P
70 4.9 H70Q H70R
72 3.5 P72Q P72R P72S P72T
73 5.2 R73C R73fsX R73G R73H
74 4.2 T74fsX T74M
75 8.3 Q75X
76 10
77 12.6 R77S
78 11.2 A78P A78T
79 10.6 A79Del A79fsX A79S A79T
80 14 A80P
82 14.2 I82Del I82dup I82Ins I82T
95 14.2 E95G E95K
96 9.4 I96T I96V
97 7.5
98 8
99 5.4 Y99N Y99S
100 11.5 R100G R100P R100Q
101 13.4 K101E
102 13.4 D102H D102V D102X
103 10.2
104 11.3
105 9.2
106 10.9 F106L F106V
107 12.8 L107P
108 13.4 C108Y