KCNQ1 Variant V206L

Summary of observed carriers, functional annotations, and structural context for KCNQ1 V206L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

25%

2/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

V206L is present in 1 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-2.52 0.624 0 0.771 32

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 – 1 1 0 –
Variant features alone – 15 8 2 –

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 V206L.
Neighbour residue Distance (Å) Observed variants
206 0 V206L,
207 4 V207M, V207L, V207L, V207L, V207L, V207del,
205 4 V205M,
203 5 L203P,
209 5 S209P,
164 6
208 6 A208V,
210 6 M210I, M210I, M210I,
168 6 G168R, G168R, G168R, G168R,
204 7 I204M, I204F,
202 7 D202N, D202H,
167 7
171 8
233 9 L233P,
237 9
165 9 V165M,
211 9
201 9 I201del,
163 10
169 10 T169M, T169R,
240 10 H240R, H240P,
213 10
212 10
160 10 E160del, E160K, E160V,
199 10 S199A,
170 11
166 11 F166V,
200 11
236 11 L236Q, L236R,
161 11
172 11 V172M, V172E,
230 11
214 12 C214Y,
162 12 V162M,
234 12 Q234H, Q234H,
229 12 G229D,
174 13 R174H, R174C, R174L,
198 13 I198V, I198T,
232 13
175 13 L175I,
194 13 A194P, A194T,
239 14
226 14 A226V,
173 14
133 14 V133I,
235 14 I235N,
225 14 S225L, S225del,
159 14 M159del,
197 15 P197L,
136 15
129 15 V129I,
215 15 V215M, V215G, V215L, V215L
243 15 R243H, R243C, R243P, R243S,