KCNQ1 Variant H510Y

Summary of observed carriers, functional annotations, and structural context for KCNQ1 H510Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

13%

1/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

H510Y is present in 1 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-4.53 0.392 -2 0.818 12

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 – 1 1 0 –
Variant features alone – 15 9 1 –

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 H510Y.
Neighbour residue Distance (Å) Observed variants
510 0 H510R, H510Y,
511 4 R511Q, R511W,
508 6 E508G,
509 6 H509Q, H509Q, H509R,
513 6 T513A, T513S, T513S,
512 6
514 7 I514T,
392 9 W392R, W392R, W392ins
515 10
387 11 P387T,
516 11
517 11 I517T,
518 12 R518Q, R518G,
394 12 I394L,
384 12
393 13 K393N,
391 13 T391A, T391I,
388 14 D388H, D388N,
389 14 S389P,
385 14 E385K,
383 14
386 15 N386K, N386K,