KCNQ1 Variant Q359del

Summary of observed carriers, functional annotations, and structural context for KCNQ1 Q359del. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

22%

4/20 effective observations

Total carriers

10

2 LQT1 · 8 unaffected

Functional studies

0

Publications with functional data

Q359del has not been reported in gnomAD. This residue resides in a NA 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 (%)
64

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 – 10 8 2 –
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 Q359del.
Neighbour residue Distance (Å) Observed variants
354 11
535 11
358 12 K358T,
259 12 R259C, R259H, R259L, R259G,
361 13
534 13
363 13 H363N,
254 14 V254M, V254L, V254L,
353 14 L353P,
257 14 I257V,
360 14 R360ins, R360G, R360M,
351 14 F351L, F351L, F351L, F351S,
258 14 H258P, H258N, H258R, H258Y,
362 15 K362R, K362del,
539 15 R539W, R539L, R539Q
357 15 Q357H, Q357H,
261 15 E261K, E261D, E261D, E261G, E261Q,