F14Y Summary

KCNH2 F14Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F14Y is not present in gnomAD. F14Y has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


F14Y 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.

F14Y 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 0.482 -0.077 0 3

F14Y has 54 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
8 13.9
9 10.2 A9T A9V
10 8.8
11 8 Q11H Q11L
12 5.4 N12D
13 5 T13N
15 4 L15V
16 7.6 D16A
17 6.5
18 6.7 I18M
19 9.5 I19F
20 12.3 R20G R20L
21 11.8
22 12.7 F22S F22Y
29 14 F29L F29S F29V
30 14.8 I30Del I30T
31 10.6 I31S
32 12.1 A32T
33 11.9 N33T
34 13.7 A34T
35 15 R35W
42 12 I42N
43 12.7 Y43C Y43D
113 13.5 V113Del
114 12.7 P114S
115 8.4 V115M
116 11.3 K116Q
117 9.9
118 12.5 E118D E118K E118X
119 14.3 D119G D119H
120 14.6
121 12.7 A121fsX
122 12.6
123 8.9
124 8.1 M124R M124T
125 12.8
126 11.3
765 14.6
766 15
786 11.9
787 14.2
788 10.3 E788D E788K
789 15
790 14
793 14.3 D793N
794 13.6 V794D V794I
795 10.2 V795I
796 13.9 V796Del V796L
797 12.9 A797T
798 11.1 I798fsX
823 14.1 R823fsX R823Q R823T R823W
824 13.3
825 9.8
826 12.9 T826A T826I