KCNQ1 Variant V110I

Summary of observed carriers, functional annotations, and structural context for KCNQ1 V110I. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

18%

5/28 effective observations

Total carriers

18

1 LQT1 · 17 unaffected

Functional studies

2

Publications with functional data

V110I is present in 16 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.26 0.21 3 0.562 33

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 LQT1 Other Disease
29197658 2018 1 None 1 None
22949429 2012 1 1 None None
21164565 2010 1 None 1 None
19841300 2009 1 1 None None
Literature, cohort, and gnomAD – 18 17 1 –
Variant features alone – 15 6 4 –

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

Functional data

Functional assay results from published electrophysiology studies. HM indicates homomeric channels, HT indicates heteromeric channels.

Homomeric channel data

Published electrophysiology measurements (homomeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

Heteromeric channel data

Published electrophysiology measurements (heteromeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.

Previously observed variants near V110I.
Neighbour residue Distance (Å) Observed variants
110 0 V110I,
107 5 Q107H, Q107H,
108 5 G108S,
177 6 S177F,
113 6
114 6
106 6
111 6 Y111C,
112 6
109 6 R109C, R109L,
173 7
174 8 R174H, R174C, R174L,
180 9
115 9 E115A, E115G,
176 9
178 9 A178T, A178del,
122 10 C122Y,
179 10 G179S,
170 10
105 10
117 10 P117L,
116 11
175 11 L175I,
104 11 T104A, T104I,
125 11
121 11
172 11 V172M, V172E,
181 12 R181C,
126 12 H126D,
119 12 G119R, G119V,
169 13 T169M, T169R,
118 13
193 13 F193L, F193L, F193L,
171 13
190 13 R190W, R190Q, R190L,
243 13 R243H, R243C, R243P, R243S,
184 14 Y184S, Y184C, Y184D, Y184H
166 14 F166V,
244 14
168 15 G168R, G168R, G168R, G168R,