KCNQ1 Variant V308F

Summary of observed carriers, functional annotations, and structural context for KCNQ1 V308F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

81%

8/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

V308F 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 (%)
-3.89 0.999 0 0.926 89

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 – 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 V308F.
Neighbour residue Distance (Å) Observed variants
314 10 G314S, G314D, G314C, G314del,
313 11
312 11 T312del, T312I,
308 11 V308F,
315 12 Y315C, Y315S, Y315N, Y315H, Y315F
309 12 T309I, T309R,
316 12 G316E, G316R, G316R, G316V,
276 13 S276del,
311 13 T311A, T311I,
277 13 S277L, S277del, S277P, S277W,
280 13 V280A, V280E,
332 14
325 14 G325R, G325R, G325E, G325W,
302 14 A302V, A302E, A302T,
273 14 L273F, L273V, L273R,
305 14 W305S, W305L, W305C, W305C, W305R, W305R,
328 14 I328del,
296 14 F296S, F296L, F296L, F296L,
310 14 V310I,
303 15 L303P,
331 15
335 15 F335L, F335L, F335L,
337 15
319 15 V319L, V319L,
298 15 S298I, S298N,