F48V Summary

KCNH2 F48V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F48V is not present in gnomAD. F48V 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.


F48V 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.

F48V 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 0.935 -4.379 0.07 -2

F48V has 65 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
19 13.4 I19F
22 12.9 F22S F22Y
23 13.8
25 14.8 Q25P
26 12.2 S26I
27 9.4 R27P R27X
28 6.2 K28E
29 7.2 F29L F29S F29V
30 6.7 I30Del I30T
31 10.8 I31S
32 13.3 A32T
40 14.3
41 10.6 V41A
42 12.7 I42N
43 9.1 Y43C Y43D
44 6.4 C44F C44W C44X
45 5.7 N45D N45K
46 8 D46E D46Y
47 5.1 G47C G47V
49 4.7 C49G C49R
50 7.5 E50X
51 5.7
52 5.5 C52W
53 7.7 G53R G53S
54 8.4 Y54N Y54X
55 9 S55L
56 9 R56Q
57 12.1 A57P
58 11.2 E58D E58K
59 7.9
60 10.8 M60T
62 12.7 R62Q
63 13.5 P63H
64 12.2 C64R C64Y
65 13.3 T65P
66 10.3 C66G C66R C66Y
67 14.6
68 10.5 F68L F68V
69 9.5 L69Del L69P
70 14 H70Q H70R
96 14.3 I96T I96V
97 14.3
98 10.5
99 14 Y99N Y99S
100 10.4 R100G R100P R100Q
101 11.7 K101E
102 14.3 D102H D102V D102X
104 14.3
105 14.7
106 10.9 F106L F106V
107 14.8 L107P
108 11.1 C108Y
109 13.4 L109P L109Q L109X
110 12.1 V110A
111 13.6 D111V
112 14.7 V112M
126 12.4
127 9.3
128 9.7 N128S
129 7 F129C
130 11.4 E130K
131 12.8 V131fsX V131L
798 13.8 I798fsX
800 15
859 14.6 T859M T859R