KCNQ1 Variant Q107H

Summary of observed carriers, functional annotations, and structural context for KCNQ1 Q107H. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

67%

7/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

1

Publications with functional data

Q107H has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

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

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-3.54 1.0 3 0.837 69

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
32893267 2020 1 None 1 None
Literature, cohort, and gnomAD – 1 0 1 –
Variant features alone – 15 4 6 –

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 Q107H.
Neighbour residue Distance (Å) Observed variants
107 0 Q107H, Q107H,
106 4
110 5 V110I,
108 5 G108S,
177 5 S177F,
180 7
104 7 T104A, T104I,
179 7 G179S,
176 7
109 8 R109C, R109L,
178 8 A178T, A178del,
105 8
111 8 Y111C,
173 8
112 10
114 10
175 11 L175I,
113 11
174 11 R174H, R174C, R174L,
190 11 R190W, R190Q, R190L,
181 11 R181C,
172 12 V172M, V172E,
115 12 E115A, E115G,
184 13 Y184S, Y184C, Y184D, Y184H
185 13 V185L, V185L, V185M, V185del,
186 13 G186R, G186D,
193 13 F193L, F193L, F193L,
170 13
116 13
182 14
169 14 T169M, T169R,
171 14
122 15 C122Y,
189 15 G189R, G189R, G189E,
117 15 P117L,