E95K Summary

KCNH2 E95K was found in 0 papers (see below) with a total of 2 carriers: 0 had LQT2. E95K is present in 2 out of 225880 alleles in gnomAD (0.000885%). E95K 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 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


E95K 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.

E95K 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
-4 0.839 -2.525 0.936 0

E95K 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
28 14.9 K28E
69 14 L69Del L69P
70 13.1 H70Q H70R
71 14.2 G71E G71R G71W
73 11.6 R73C R73fsX R73G R73H
74 10.8 T74fsX T74M
75 9.4 Q75X
76 12.9
77 11.2 R77S
78 8.2 A78P A78T
79 10.7 A79Del A79fsX A79S A79T
80 12.6 A80P
81 9.5 Q81E Q81H Q81P Q81X
82 10.9 I82Del I82dup I82Ins I82T
83 15 A83fsX A83P
85 14.6 A85P A85V
91 14.1
92 12.2 R92C R92L
93 8.5 K93R K93X
94 5.4 V94A V94L
96 5.2 I96T I96V
97 7.6
98 9.5
99 13.7 Y99N Y99S
105 12.6
106 10.7 F106L F106V
107 6.4 L107P
108 6.5 C108Y
109 5.8 L109P L109Q L109X
110 7.3 V110A
111 11.1 D111V
112 12.6 V112M
127 14
128 13 N128S
129 11.2 F129C
130 10.9 E130K
131 9.9 V131fsX V131L