KCNQ1 Variant F275del

Summary of observed carriers, functional annotations, and structural context for KCNQ1 F275del. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

48%

6/14 effective observations

Total carriers

4

2 LQT1 · 2 unaffected

Functional studies

0

Publications with functional data

F275del has not been reported in gnomAD. This residue resides in a NA 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 (%)
72

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 1 None 1 None
Literature, cohort, and gnomAD – 4 2 2 –
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 F275del.
Neighbour residue Distance (Å) Observed variants
275 0 F275del,
274 5 I274V,
235 5 I235N,
272 5 G272D, G272S, G272V,
278 6 Y278H,
276 6 S276del,
271 6
279 6 F279I,
232 7
277 7 S277L, S277del, S277P, S277W,
236 7 L236Q, L236R,
273 7 L273F, L273V, L273R,
332 8
238 8 M238V, M238L, M238L,
239 9
269 10 G269D, G269S, G269del,
299 10
280 10 V280A, V280E,
234 10 Q234H, Q234H,
303 10 L303P,
233 11 L233P,
268 11 I268V, I268S,
270 11 F270S,
335 11 F335L, F335L, F335L,
328 11 I328del,
137 11 L137F, L137P,
282 11 L282P,
231 11 R231C, R231H, R231S,
267 11 Y267C,
229 12 G229D,
306 12 G306V, G306R, G306R,
336 12 A336S,
302 12 A302V, A302E, A302T,
237 12
281 12 Y281C
248 13 W248C, W248C, W248R, W248R,
201 13 I201del,
240 13 H240R, H240P,
339 13 F339del, F339S,
310 13 V310I,
140 13 S140G, S140R, S140R, S140R,
230 13
205 13 V205M,
228 14
133 14 V133I,
283 14 A283G, A283T,
141 14 V141M,
134 14 L134P,
325 14 G325R, G325R, G325E, G325W,
300 14 A300T, A300S,
241 14 V241F, V241I, V241G,
309 14 T309I, T309R,
242 14 D242N, D242Y,
204 14 I204M, I204F,
136 14
130 15