KCNQ1 Variant I201del

Summary of observed carriers, functional annotations, and structural context for KCNQ1 I201del. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

72%

8/12 effective observations

Total carriers

2

2 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

I201del has not been reported in gnomAD. This residue resides in a NA 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 (%)
77

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 2 None 2 None
Literature, cohort, and gnomAD – 2 0 2 –
Variant features alone – 15 4 6 –

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 I201del.
Neighbour residue Distance (Å) Observed variants
201 0 I201del,
202 5 D202N, D202H,
200 5
204 5 I204M, I204F,
198 5 I198V, I198T,
199 6 S199A,
197 6 P197L,
240 7 H240R, H240P,
205 7 V205M,
236 7 L236Q, L236R,
239 7
203 7 L203P,
196 9
206 9 V206L,
237 10
233 10 L233P,
243 10 R243H, R243C, R243P, R243S,
171 10
194 10 A194P, A194T,
248 11 W248C, W248C, W248R, W248R,
207 11 V207M, V207L, V207L, V207L, V207L, V207del,
232 11
242 11 D242N, D242Y,
208 11 A208V,
235 11 I235N,
241 12 V241F, V241I, V241G,
167 12
238 12 M238V, M238L, M238L,
245 12 G245V,
209 12 S209P,
174 12 R174H, R174C, R174L,
193 12 F193L, F193L, F193L,
275 13 F275del,
244 13
168 13 G168R, G168R, G168R, G168R,
195 13 R195Q, R195W,
234 13 Q234H, Q234H,
170 13
271 13
115 14 E115A, E115G,
164 14
229 14 G229D,
175 14 L175I,
133 14 V133I,
230 15
246 15
267 15 Y267C
247 15 T247I,
210 15 M210I, M210I, M210I,
130 15