K21E Summary

KCNH2 K21E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K21E is not present in gnomAD. K21E 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.

K21E 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.

K21E 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 0.735 -2.155 0.14 0

K21E has 26 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
13 13.3 T13N
14 11.8
15 11.1 L15V
16 9.5 D16A
17 6.6
18 5.8 I18M
19 7.2 I19F
20 7.3 R20G R20L
22 4.5 F22S F22Y
23 6.7
24 6.6
25 6.1 Q25P
26 10.1 S26I
27 9.5 R27P R27X
28 13.7 K28E
29 10.4 F29L F29S F29V
30 14.5 I30Del I30T
31 13.5 I31S
43 13.3 Y43C Y43D
45 13.2 N45D N45K
111 14.2 D111V
113 12.7 V113Del
115 13.2 V115M
126 11.2
127 14.7
128 11.8 N128S