D102H Summary

KCNH2 D102H was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. D102H is not present in gnomAD. D102H 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.

D102H Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
26496715 2015 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

D102H 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 0.893 -3.658 0.929 -1

D102H has 23 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
48 14.3
49 12.9 C49G C49R
50 12.8 E50X
51 10.7
52 8.9 C52W
53 8.1 G53R G53S
54 9.2 Y54N Y54X
55 13.6 S55L
58 13.9 E58D E58K
68 12.7 F68L F68V
69 11.8 L69Del L69P
70 14.7 H70Q H70R
71 13.4 G71E G71R G71W
72 14.1 P72Q P72R P72S P72T
97 14.2
98 13
99 8.8 Y99N Y99S
100 5.7 R100G R100P R100Q
101 5.2 K101E
103 3.9
104 5
105 9.4
106 10.7 F106L F106V