C64F Summary

KCNH2 C64F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C64F is not present in gnomAD. C64F 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.


C64F 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.

C64F 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 0.896 -7.052 1 -3

C64F has 67 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
29 12.6 F29L F29S F29V
30 7.8 I30Del I30T
31 9.1 I31S
32 6.5 A32T
33 9.6 N33T
34 10.1 A34T
35 12.7 R35W
36 10.5 V36X
37 12.2
38 8.3
39 5.3 C39R C39X
40 6.7
41 6.8 V41A
42 10.3 I42N
43 13 Y43C Y43D
44 12.6 C44F C44W C44X
48 12.2
52 14.6 C52W
54 14.7 Y54N Y54X
58 14.7 E58D E58K
59 10.1
60 11.2 M60T
61 11.7 Q61R
62 9 R62Q
63 4.9 P63H
65 4.1 T65P
66 5.7 C66G C66R C66Y
67 9.1
68 10.2 F68L F68V
69 10.6 L69Del L69P
70 11.5 H70Q H70R
78 14.3 A78P A78T
79 11.4 A79Del A79fsX A79S A79T
80 12.4 A80P
81 13.7 Q81E Q81H Q81P Q81X
82 8.3 I82Del I82dup I82Ins I82T
83 8.6 A83fsX A83P
84 12.8
85 10.2 A85P A85V
86 7.4 L86R
87 11.5 L87P
88 14
89 14.1 A89G A89V
90 14.3 E90K
92 13.9 R92C R92L
94 13.3 V94A V94L
96 13.7 I96T I96V
98 12.5
108 15 C108Y
110 11.1 V110A
111 13 D111V
112 10.1 V112M
113 12.5 V113Del
114 12.3 P114S
115 14.4 V115M
122 13.2
123 13.6
124 11 M124R M124T
125 7.2
126 10.4
127 7.5
128 13 N128S
129 11.7 F129C
795 14.3 V795I
796 13.1 V796Del V796L
797 14.7 A797T
798 15 I798fsX