C49S Summary

KCNH2 C49S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C49S is not present in gnomAD. C49S 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.


C49S 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.

C49S 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 0.917 -6.159 0.462 -2

C49S has 51 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 15 I19F
23 14.8
26 13.5 S26I
27 11.8 R27P R27X
28 9.4 K28E
29 10.5 F29L F29S F29V
30 10.6 I30Del I30T
31 13.8 I31S
41 12.8 V41A
42 14.4 I42N
43 10.4 Y43C Y43D
44 6.8 C44F C44W C44X
45 6.5 N45D N45K
46 5.8 D46E D46Y
47 5.3 G47C G47V
48 4.7
50 5.2 E50X
51 6.8
52 5.4 C52W
53 5 G53R G53S
54 7.2 Y54N Y54X
55 6 S55L
56 7.1 R56Q
57 10.3 A57P
58 9.6 E58D E58K
59 8.4
60 11.1 M60T
62 13.8 R62Q
66 13.4 C66G C66R C66Y
68 12 F68L F68V
69 11.9 L69Del L69P
98 13.6
100 10.5 R100G R100P R100Q
101 10 K101E
102 12.9 D102H D102V D102X
104 14.2
106 13 F106L F106V
108 14.8 C108Y
127 13.9
128 14 N128S
129 11.4 F129C
130 14.7 E130K
741 12.9 K741R
798 14.5 I798fsX
799 14.5 L799sp
800 13.7
801 14.1 K801T
802 12.8
803 12.8 D803X D803Y
857 11.9 E857X
859 12.7 T859M T859R