KCNQ1 Variant P625R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 P625R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

14%

1/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

P625R 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 (%)
-0.54 0.356 -1 0.555 13

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 P625R.
Neighbour residue Distance (Å) Observed variants
625 0 P625R,
624 4
626 4 G626S,
623 5
627 5
622 7 G622S,
628 7 G628S, G628D,
621 8 G621S, G621C, G621D,
629 8 G629S,
620 8
630 8 P630S, P630T,
619 9 L619M,
631 9 P631R,
618 10
632 10
617 11
633 11
616 11
634 11
615 12
635 12 G635R, G635R,
614 13 H614del,
636 13
613 13
637 13
612 14
638 14
611 14 D611N, D611Y,
639 14
610 15
640 15 Q640L