C44R Summary

KCNH2 C44R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C44R is not present in gnomAD. C44R 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.


C44R 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.

C44R 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 0.975 -7.698 1 -5

C44R has 69 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
15 12.8 L15V
16 13.9 D16A
18 13.5 I18M
19 10.2 I19F
22 12.8 F22S F22Y
23 12.9
26 14.2 S26I
27 11.5 R27P R27X
28 10.7 K28E
29 7.4 F29L F29S F29V
30 6.7 I30Del I30T
31 8 I31S
32 11 A32T
33 14.3 N33T
39 14.8 C39R C39X
40 11.5
41 7.6 V41A
42 7.9 I42N
43 4.1 Y43C Y43D
45 4.9 N45D N45K
46 7.3 D46E D46Y
47 8.3 G47C G47V
48 6.4
49 6.8 C49G C49R
50 11.1 E50X
51 11.8
52 10.4 C52W
53 11 G53R G53S
54 10.9 Y54N Y54X
55 8 S55L
56 4.1 R56Q
57 8.9 A57P
58 10.4 E58D E58K
59 6.6
60 6.4 M60T
61 11.3 Q61R
62 11.7 R62Q
63 13.2 P63H
64 12.6 C64R C64Y
66 12.7 C66G C66R C66Y
68 13.1 F68L F68V
69 13.9 L69Del L69P
124 14.3 M124R M124T
125 14.5
126 12.3
127 11.1
128 12.8 N128S
129 11.8 F129C
782 13.6 I782fsX I782N
785 13.7 G785D G785fsX G785S
786 12.7
787 13.1
788 13.1 E788D E788K
789 13.5
795 14 V795I
796 12 V796Del V796L
797 9.9 A797T
798 7.8 I798fsX
799 9 L799sp
800 9.3
801 11.5 K801T
802 11.7
803 9.7 D803X D803Y
804 12.9
805 14.8 F805C F805S
857 12.7 E857X
858 13.6 I858T I858V
859 9.3 T859M T859R
860 11.6