KCNQ1 Variant F157C

Summary of observed carriers, functional annotations, and structural context for KCNQ1 F157C. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

82%

8/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

F157C has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-6.48 0.681 -2 0.941 90

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
24606995 2014 1 None 1 None
Literature, cohort, and gnomAD – 1 0 1 –
Variant features alone – 15 3 7 –

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.

Previously observed variants near F157C.
Neighbour residue Distance (Å) Observed variants
157 0 F157C,
154 5
161 6
213 6
156 7
217 7
160 7 E160del, E160K, E160V,
216 7 G216R,
153 7 T153M,
158 7
155 8
159 8 M159del,
152 9
162 9 V162M,
222 9
214 10 C214Y,
212 10
226 10 A226V,
230 10
218 10
215 11 V215M, V215G, V215L, V215L
209 11 S209P,
164 11
163 11
151 12
149 12
219 12 G219E,
227 12
143 13 S143F, S143P, S143Y,
136 13
210 13 M210I, M210I, M210I,
165 13 V165M,
150 13 A150T,
211 13
139 13
234 13 Q234H, Q234H,
140 13 S140G, S140R, S140R, S140R,
225 13 S225L, S225del,
221 14
223 14
229 14 G229D,
231 14 R231C, R231H, R231S,
208 14 A208V,
233 14 L233P,
237 15