KCNQ1 Variant E160V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E160V. 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

E160V 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 (%)
-6.43 1.0 -5 0.972 91

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
19716085 2009 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 E160V.
Neighbour residue Distance (Å) Observed variants
160 0 E160del, E160K, E160V,
159 5 M159del,
161 5
156 6
163 6
164 6
213 7
157 7 F157C,
230 7
162 7 V162M,
136 7
209 7 S209P,
234 7 Q234H, Q234H,
158 8
237 8
233 9 L233P,
155 9
212 9
154 10
167 10
165 10 V165M,
226 10 A226V,
140 10 S140G, S140R, S140R, S140R,
139 10
133 10 V133I,
153 10 T153M,
205 10 V205M,
206 10 V206L,
132 11 I132L,
152 11
208 11 A208V,
229 11 G229D,
137 11 L137F, L137P,
210 11 M210I, M210I, M210I,
166 11 F166V,
216 11 G216R,
231 11 R231C, R231H, R231S,
135 11
214 12 C214Y,
211 12
222 12
217 12
143 12 S143F, S143P, S143Y,
227 13
235 13 I235N,
225 13 S225L, S225del,
168 13 G168R, G168R, G168R, G168R,
207 13 V207M, V207L, V207L, V207L, V207L, V207del,
236 13 L236Q, L236R,
232 13
138 13
215 13 V215M, V215G, V215L, V215L
129 13 V129I,
134 14 L134P,
240 14 H240R, H240P,
141 14 V141M,
142 14
149 14
238 14 M238V, M238L, M238L,
169 15 T169M, T169R,
221 15
228 15
202 15 D202N, D202H,
144 15 T144A,
151 15
204 15 I204M, I204F,