D16N Summary

KCNH2 D16N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D16N is not present in gnomAD. D16N 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.


D16N 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.

D16N 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 0.655 -1.808 0.011 0

D16N has 57 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
8 14.8
9 11.2 A9T A9V
10 10.2
11 12.5 Q11H Q11L
12 9.3 N12D
13 6 T13N
14 7.6
15 5.6 L15V
17 4.4
18 6.5 I18M
19 5.3 I19F
20 5.8 R20G R20L
21 9.5
22 10.6 F22S F22Y
23 10.3
24 12.7
25 14.1 Q25P
27 14.6 R27P R27X
29 12.3 F29L F29S F29V
30 14.7 I30Del I30T
31 11.7 I31S
42 12.7 I42N
43 10.1 Y43C Y43D
44 13.9 C44F C44W C44X
45 13.3 N45D N45K
115 14.2 V115M
124 13.2 M124R M124T
126 13.6
479 12.7
480 13.2 E480V
481 15
763 14.5
764 14.4
765 11.9
766 13.9
782 14.4 I782fsX I782N
783 14.7 S783P
784 13.1 R784G R784Q R784W
785 8.3 G785D G785fsX G785S
786 6.4
787 10.5
788 9.6 E788D E788K
789 14.6
795 13.2 V795I
797 12.5 A797T
798 9 I798fsX
799 11.6 L799sp
800 10.3
801 11.5 K801T
803 14.8 D803X D803Y
823 14.3 R823fsX R823Q R823T R823W
824 10.6
825 6.8
826 7.5 T826A T826I
827 12
828 11.1
829 14.4 D829A D829E