KCNQ1 Variant C136S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 C136S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

43%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

C136S has not been reported in gnomAD. This residue resides in a 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 (%)
-8.98 0.796 4 0.789 45

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
Literature, cohort, and gnomAD – 0 0 0 –
Variant features alone – 15 6 4 –

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 C136S.
Neighbour residue Distance (Å) Observed variants
136 0
137 4 L137F, L137P,
135 5
139 5
133 5 V133I,
234 5 Q234H, Q234H,
140 6 S140G, S140R, S140R, S140R,
138 6
159 6 M159del,
132 7 I132L,
134 7 L134P,
156 7
160 7 E160del, E160K, E160V,
237 7
163 8
141 9 V141M,
230 9
235 10 I235N,
142 10
238 10 M238V, M238L, M238L,
155 10
131 10
143 10 S143F, S143P, S143Y,
130 10
231 10 R231C, R231H, R231S,
233 10 L233P,
152 10
129 11 V129I,
162 11 V162M,
167 11
164 12
236 12 L236Q, L236R,
158 12
161 12
144 12 T144A,
154 12
128 12 A128del,
153 12 T153M,
299 12
229 12 G229D,
209 13 S209P,
157 13 F157C,
232 13
240 13 H240R, H240P,
205 13 V205M,
274 13 I274V,
166 13 F166V,
226 13 A226V,
239 14
213 14
148 14
149 14
145 14
241 14 V241F, V241I, V241G
151 14
275 14 F275del,
227 15
165 15 V165M,
127 15 F127L, F127L, F127L,
278 15 Y278H,
206 15 V206L,
303 15 L303P,
212 15