K101R Summary

KCNH2 K101R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K101R is not present in gnomAD. K101R 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.

K101R 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.

K101R 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 0.819 -1.824 0.83 1

K101R has 30 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
47 14.1 G47C G47V
48 11.7
49 10 C49G C49R
50 11.9 E50X
51 10.2
52 6.5 C52W
53 5.1 G53R G53S
54 4.5 Y54N Y54X
55 9 S55L
56 14.4 R56Q
57 12.6 A57P
58 8.7 E58D E58K
59 11.4
62 13.8 R62Q
66 13.4 C66G C66R C66Y
67 14
68 9 F68L F68V
69 9.6 L69Del L69P
70 13.2 H70Q H70R
71 13.4 G71E G71R G71W
97 15
98 12.5
99 10 Y99N Y99S
100 7.1 R100G R100P R100Q
102 5.2 D102H D102V D102X
103 7.4
104 8.8
105 12.1
106 12 F106L F106V
857 13.7 E857X