F129L Summary

KCNH2 F129L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F129L is not present in gnomAD. F129L 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.


F129L 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.

F129L 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 0.737 -4.353 0.018 -2

F129L has 63 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
18 15 I18M
19 14.4 I19F
22 11.2 F22S F22Y
23 14.3
25 12.5 Q25P
26 11.5 S26I
27 8.3 R27P R27X
28 4.8 K28E
29 7.4 F29L F29S F29V
30 7.5 I30Del I30T
31 11.6 I31S
32 13.4 A32T
41 13.4 V41A
43 12.5 Y43C Y43D
44 11.8 C44F C44W C44X
45 9.9 N45D N45K
46 13.3 D46E D46Y
47 9.1 G47C G47V
48 7
49 11.4 C49G C49R
50 12 E50X
51 8
52 10.2 C52W
53 13.5 G53R G53S
54 13.9 Y54N Y54X
59 13.2
64 11.7 C64R C64Y
65 12.4 T65P
66 10.9 C66G C66R C66Y
68 13.3 F68L F68V
69 10.6 L69Del L69P
70 13.4 H70Q H70R
78 14.8 A78P A78T
79 14.5 A79Del A79fsX A79S A79T
82 11.7 I82Del I82dup I82Ins I82T
85 14.7 A85P A85V
86 14.8 L86R
91 13.7
92 14.3 R92C R92L
93 10.7 K93R K93X
94 10.2 V94A V94L
95 11.2 E95G E95K
96 10 I96T I96V
97 11.4
98 8.6
99 14.2 Y99N Y99S
100 12.4 R100G R100P R100Q
105 14
106 9.6 F106L F106V
107 10.7 L107P
108 6.1 C108Y
109 6.7 L109P L109Q L109X
110 5.8 V110A
111 7.2 D111V
112 9.4 V112M
113 11.2 V113Del
114 14.3 P114S
125 13
126 9.6
127 6
128 4.3 N128S
130 6.4 E130K
131 8.6 V131fsX V131L