A57D Summary

KCNH2 A57D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A57D is not present in gnomAD. A57D 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


A57D 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.

A57D 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 0.657 -2.081 0.673 -3

A57D has 52 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
30 13.6 I30Del I30T
31 14.7 I31S
40 12.6
41 10.1 V41A
42 11.9 I42N
43 12.1 Y43C Y43D
44 8.9 C44F C44W C44X
45 13.2 N45D N45K
46 13.3 D46E D46Y
47 14.9 G47C G47V
48 12.1
49 10.3 C49G C49R
52 12.2 C52W
53 11 G53R G53S
54 8.9 Y54N Y54X
55 5 S55L
56 6.3 R56Q
58 4.3 E58D E58K
59 5.8
60 5.6 M60T
61 7.7 Q61R
62 8.4 R62Q
63 12.9 P63H
66 13.9 C66G C66R C66Y
68 11.7 F68L F68V
69 14.7 L69Del L69P
101 12.6 K101E
741 13 K741R
782 14.8 I782fsX I782N
789 13.7
796 12.9 V796Del V796L
797 12 A797T
798 12.8 I798fsX
799 11.3 L799sp
800 13.4
802 13.6
803 10.5 D803X D803Y
804 9.8
805 12.4 F805C F805S
806 12 G806R
807 13.6 E807X
808 12.6
853 14.9 W853X
854 13.3
855 12.7 S855R
856 10.7
857 6.5 E857X
858 7.1 I858T I858V
859 5.5 T859M T859R
860 7.8
861 9.2 N861H N861I
862 12.5 L862P