F98L Summary

KCNH2 F98L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F98L is not present in gnomAD. F98L 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


F98L 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.

F98L 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 0.547 -1.943 0.003 2

F98L has 58 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
28 11.9 K28E
29 15 F29L F29S F29V
30 12.8 I30Del I30T
47 14 G47C G47V
48 10.5
49 13.6 C49G C49R
50 14.7 E50X
51 8.8
52 9 C52W
53 12.4 G53R G53S
54 11.6 Y54N Y54X
59 13.7
62 15 R62Q
63 13.9 P63H
64 12.5 C64R C64Y
65 10.4 T65P
66 8.2 C66G C66R C66Y
67 10.3
68 9 F68L F68V
69 4.8 L69Del L69P
70 6.1 H70Q H70R
71 8 G71E G71R G71W
72 10.5 P72Q P72R P72S P72T
73 8.9 R73C R73fsX R73G R73H
74 7.6 T74fsX T74M
75 10.2 Q75X
76 12.8
77 13.5 R77S
78 10.4 A78P A78T
79 10 A79Del A79fsX A79S A79T
80 13.5 A80P
81 13.2 Q81E Q81H Q81P Q81X
82 10.7 I82Del I82dup I82Ins I82T
83 14.5 A83fsX A83P
93 14.6 K93R K93X
94 10.5 V94A V94L
95 9.5 E95G E95K
96 5 I96T I96V
97 4.2
99 6.3 Y99N Y99S
100 8.2 R100G R100P R100Q
101 12.5 K101E
102 13 D102H D102V D102X
103 11.1
104 10.2
105 7.6
106 5.4 F106L F106V
107 7.7 L107P
108 6.1 C108Y
109 9.8 L109P L109Q L109X
110 8.7 V110A
111 13.5 D111V
112 14.1 V112M
127 11.7
128 12.7 N128S
129 8.6 F129C
130 11.8 E130K
131 10.8 V131fsX V131L