KCNQ1 Variant R511Q

Summary of observed carriers, functional annotations, and structural context for KCNQ1 R511Q. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

34%

4/12 effective observations

Total carriers

2

0 LQT1 · 2 unaffected

Functional studies

0

Publications with functional data

R511Q is present in 2 alleles 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 (%)
-2.45 0.998 -1 0.859 41

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 – 2 2 0 –
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 R511Q.
Neighbour residue Distance (Å) Observed variants
511 0 R511Q, R511W,
510 4 H510R, H510Y,
508 5 E508G,
392 6 W392R, W392R, W392ins
512 6
514 7 I514T,
387 7 P387T,
509 8 H509Q, H509Q, H509R,
513 8 T513A, T513S, T513S,
515 9
384 9
388 10 D388H, D388N,
518 10 R518Q, R518G,
386 11 N386K, N386K,
385 11 E385K,
389 11 S389P,
391 11 T391A, T391I,
383 11
516 11
517 12 I517T,
393 12 K393N,
394 12 I394L,
381 13 C381Y,
390 13
380 14 R380S, R380S, R380G,
519 14 R519H, R519C,