KCNH2 Variant V113Del

Summary of observed carriers, functional annotations, and structural context for KCNH2 V113Del. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT2 penetrance

12%

3/13 effective observations

Total carriers

3

2 LQT2 · 1 unaffected

Functional studies

0

Publications with functional data

V113Del has not been reported in gnomAD. This residue resides in a Hotspot region for LQT2.

Variant features alone are equivalent to phenotyping 1 individuals with LQT2 and 9 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT2 (%)
None None None None 52

PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT2 Other Disease
Italy Cohort 2020 3 1 2
Literature, cohort, and gnomAD – 3 1 2 –
Variant features alone – 10 9 1 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD. Note that some residues appear multiple times at different distances since the functional KV11.1 channel (protein product of KCNH2/hERG) is a homotetramer and occasionally the same residue from multiple subunits is present within the 15Å window.

Previously observed variants near V113Del.
Neighbour residue Distance (Å) Observed variants
113 0 V113Del,
114 4 P114S,
112 5 V112M,
126 5
111 6 D111V,
91 6
115 7 V115M,
90 7 E90K,
127 7
125 7
128 8 N128S,
89 9 A89G, A89V,
92 9 R92C, R92L,
93 10 K93X, K93R,
116 10 K116Q,
124 10 M124T, M124R,
110 10 V110A,
85 10 A85P, A85V,
86 10 L86R,
31 10 I31S,
122 10
22 11 F22Y, F22S,
18 11 I18M,
30 11 I30Del, I30T,
29 11 F29L, F29V, F29S, F29L, F29L,
32 11 A32T,
129 11 F129C,
123 11
88 12
94 12 V94L, V94L, V94A,
109 12 L109X, L109Q, L109P,
82 12 I82Del, I82dup, I82Ins, I82T,
64 13 C64R, C64Y,
21 13
121 13 A121fsX,
27 13 R27X, R27P,
15 13 L15V,
14 13
34 14 A34T,
25 14 Q25P,
87 14 L87P,
19 14 I19F,
33 14 N33T
28 14 K28E,
117 14
83 14 A83P, A83fsX,
39 14 C39R, C39X,
130 14 E130K,
17 15
43 15 Y43D, Y43C,
81 15 Q81E, Q81X, Q81P, Q81H, Q81H,
120 15
65 15 T65P,