G47S Summary

KCNH2 G47S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G47S is not present in gnomAD. G47S 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.


G47S 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.

G47S 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 0.92 -3.349 1 -1

G47S has 47 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 12.5 I19F
22 11.7 F22S F22Y
23 10.6
24 12.6
25 12.2 Q25P
26 8.4 S26I
27 6.9 R27P R27X
28 5.2 K28E
29 7.9 F29L F29S F29V
30 10.2 I30Del I30T
31 13.4 I31S
41 14.7 V41A
43 10.2 Y43C Y43D
44 8.3 C44F C44W C44X
45 4.6 N45D N45K
46 4.8 D46E D46Y
48 5.1
49 5.3 C49G C49R
50 4.3 E50X
51 6.4
52 8.2 C52W
53 9.3 G53R G53S
54 11.8 Y54N Y54X
55 11.1 S55L
56 10.3 R56Q
57 14.9 A57P
58 14.6 E58D E58K
59 12.2
60 14.2 M60T
69 14 L69Del L69P
98 14
100 12 R100G R100P R100Q
101 14.1 K101E
106 12.7 F106L F106V
108 12.9 C108Y
109 14.8 L109P L109Q L109X
110 14.9 V110A
126 14.5
127 12.5
128 10.6 N128S
129 9.1 F129C
130 10.8 E130K
131 12.4 V131fsX V131L
800 14.3
801 13.8 K801T
802 14
803 14.9 D803X D803Y