D111N Summary

KCNH2 D111N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D111N is not present in gnomAD. D111N 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


D111N 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.

D111N 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 0.482 -2.07 0.001 0

D111N has 49 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 13.7 I18M
21 14.2
22 10.9 F22S F22Y
25 12.5 Q25P
26 14.3 S26I
27 11.2 R27P R27X
28 10.4 K28E
29 10.3 F29L F29S F29V
30 10.5 I30Del I30T
31 12.6 I31S
32 13.5 A32T
45 14.8 N45D N45K
48 13.6
64 13 C64R C64Y
65 14.2 T65P
66 14.6 C66G C66R C66Y
78 14.5 A78P A78T
79 14.7 A79Del A79fsX A79S A79T
81 12.7 Q81E Q81H Q81P Q81X
82 10.6 I82Del I82dup I82Ins I82T
83 14 A83fsX A83P
85 10.8 A85P A85V
86 12.1 L86R
88 14.3
89 12.7 A89G A89V
90 9.7 E90K
91 6.5
92 8.7 R92C R92L
93 5.2 K93R K93X
94 7.9 V94A V94L
95 11.1 E95G E95K
96 12.2 I96T I96V
98 13.5
107 14.1 L107P
108 9.9 C108Y
109 6.5 L109P L109Q L109X
110 5.2 V110A
112 4.4 V112M
113 5.7 V113Del
114 9.1 P114S
115 12.3 V115M
124 14.1 M124R M124T
125 10.8
126 7.4
127 6.5
128 4.8 N128S
129 7.2 F129C
130 9.3 E130K
131 12.3 V131fsX V131L