KCNQ1 Variant F279I

Summary of observed carriers, functional annotations, and structural context for KCNQ1 F279I. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

43%

4/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

2

Publications with functional data

F279I 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 (%)
-4.86 0.425 1 0.849 53

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
26168993 2015 1 1 None SQTS
Literature, cohort, and gnomAD – 1 1 0 –
Variant features alone – 15 6 4 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Functional data

Functional assay results from published electrophysiology studies. HM indicates homomeric channels, HT indicates heteromeric channels.

Homomeric channel data

Published electrophysiology measurements (homomeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

Heteromeric channel data

Published electrophysiology measurements (heteromeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

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 F279I.
Neighbour residue Distance (Å) Observed variants
279 0 F279I,
278 4 Y278H,
276 5 S276del,
282 6 L282P,
328 6 I328del,
280 6 V280A, V280E,
275 6 F275del,
277 7 S277L, S277del, S277P, S277W,
332 7
283 8 A283G, A283T,
232 8
325 8 G325R, G325R, G325E, G325W,
281 9 Y281C
324 9
274 9 I274V,
272 9 G272D, G272S, G272V,
235 10 I235N,
299 10
273 10 L273F, L273V, L273R,
284 10 E284K,
302 10 A302V, A302E, A302T,
228 11
231 11 R231C, R231H, R231S,
229 11 G229D,
236 12 L236Q, L236R,
322 12 T322M, T322A, T322K,
285 12
333 12
296 12 F296S, F296L, F296L, F296L,
271 12
335 12 F335L, F335L, F335L,
320 12 P320H, P320A, P320S,
233 13 L233P,
323 13
336 13 A336S,
234 14 Q234H, Q234H,
309 14 T309I, T309R,
286 14
269 14 G269D, G269S, G269del,
230 14
225 14 S225L, S225del,
298 14 S298I, S298N,
227 15
239 15
238 15 M238V, M238L, M238L,
287 15 A287E, A287T, A287S,
297 15 G297S, G297D, G297R,
140 15 S140G, S140R, S140R, S140R,