K28T Summary

KCNH2 K28T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K28T is not present in gnomAD. K28T 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.


K28T 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.

K28T 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 0.811 -3.289 0.274 -2

K28T has 51 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
18 14.2 I18M
19 12.6 I19F
21 13.7
22 9.4 F22S F22Y
23 10.7
24 11.9
25 9.7 Q25P
26 7.3 S26I
27 4.6 R27P R27X
29 6.4 F29L F29S F29V
30 8.9 I30Del I30T
31 12.6 I31S
41 14.9 V41A
43 11.5 Y43C Y43D
44 10.7 C44F C44W C44X
45 7.1 N45D N45K
46 9.6 D46E D46Y
47 5.2 G47C G47V
48 6.2
49 9.4 C49G C49R
50 8.5 E50X
51 6.9
52 10 C52W
53 12.4 G53R G53S
54 14.1 Y54N Y54X
55 14.9 S55L
56 13.9 R56Q
59 13.9
66 14.3 C66G C66R C66Y
69 13.3 L69Del L69P
93 14 K93R K93X
94 14.7 V94A V94L
95 14.9 E95G E95K
96 14.1 I96T I96V
97 14.6
98 11.9
100 12.6 R100G R100P R100Q
106 11 F106L F106V
107 12.9 L107P
108 9 C108Y
109 9.9 L109P L109Q L109X
110 10.4 V110A
111 10.4 D111V
112 13.3 V112M
113 13.8 V113Del
126 11.4
127 9.3
128 5.9 N128S
129 4.8 F129C
130 6.1 E130K
131 8.7 V131fsX V131L