E91V Summary

KCNH2 E91V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E91V is not present in gnomAD. E91V 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.

E91V 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.

E91V 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 0.808 -4.881 0.113 -3

E91V has 29 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 14.9 F22S F22Y
81 12.7 Q81E Q81H Q81P Q81X
82 12.3 I82Del I82dup I82Ins I82T
83 14.3 A83fsX A83P
84 13.7
85 9.5 A85P A85V
86 12 L86R
87 14.2 L87P
88 10.8
89 8.7 A89G A89V
90 5.2 E90K
92 5.8 R92C R92L
93 6.2 K93R K93X
94 9.9 V94A V94L
95 14.1 E95G E95K
109 11.3 L109P L109Q L109X
110 10.1 V110A
111 6.5 D111V
112 6.1 V112M
113 6 V113Del
114 7.5 P114S
115 11.3 V115M
116 12.1 K116Q
122 13.7
125 11.9
126 10.4
127 11.3
128 11 N128S
129 13.7 F129C