C105W Summary

KCNH2 C105W was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C105W is not present in gnomAD. C105W 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.

C105W 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.

C105W 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 0.824 -5.145 0.999 -3

C105W has 32 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
48 14.7
51 10.2
52 11.1 C52W
53 13.2 G53R G53S
54 13.8 Y54N Y54X
66 15 C66G C66R C66Y
68 13.6 F68L F68V
69 10.2 L69Del L69P
70 11.1 H70Q H70R
71 9.2 G71E G71R G71W
72 9.4 P72Q P72R P72S P72T
73 8 R73C R73fsX R73G R73H
74 9.9 T74fsX T74M
75 12.6 Q75X
95 12.6 E95G E95K
96 10 I96T I96V
97 6.1
98 7.6
99 4.5 Y99N Y99S
100 6 R100G R100P R100Q
101 12.1 K101E
102 9.4 D102H D102V D102X
103 6.6
104 4.6
106 4.5 F106L F106V
107 7.3 L107P
108 9.7 C108Y
109 14 L109P L109Q L109X
110 15 V110A
129 14 F129C
130 14.2 E130K
131 11.2 V131fsX V131L