A121P Summary

KCNH2 A121P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A121P is not present in gnomAD. A121P 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.


A121P 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.

A121P 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 0.7 -1.815 0.712 -3

A121P has 31 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
11 14.6 Q11H Q11L
12 14.4 N12D
14 12.7
15 14.9 L15V
32 13.3 A32T
33 11.5 N33T
34 9.2 A34T
35 10.6 R35W
36 13.7 V36X
39 14.4 C39R C39X
85 14.2 A85P A85V
86 12.7 L86R
87 12.1 L87P
88 11
89 9.3 A89G A89V
90 12.2 E90K
113 13 V113Del
114 9.4 P114S
115 7.8 V115M
116 4.8 K116Q
117 4.9
118 7.7 E118D E118K E118X
119 5.9 D119G D119H
120 3.4
122 4
123 5.7
124 9.3 M124R M124T
125 10.7
126 14
794 15 V794D V794I
795 14.6 V795I