KCNQ1 Variant P630S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 P630S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

9%

1/12 effective observations

Total carriers

2

0 LQT1 · 2 unaffected

Functional studies

0

Publications with functional data

P630S is present in 2 alleles in gnomAD. This residue resides in a Non_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 (%)
-0.86 0.984 0 0.616 2

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 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 P630S.
Neighbour residue Distance (Å) Observed variants
630 0 P630S, P630T,
629 4 G629S,
631 4 P631R,
628 5 G628S, G628D,
632 5
627 7
633 7
626 8 G626S,
634 8
625 8 P625R,
635 8 G635R, G635R,
624 9
636 9
623 10
637 10
622 11 G622S,
638 11
621 11 G621S, G621C, G621D,
639 11
620 12
640 12 Q640L
619 13 L619M,
641 13 P641L,
618 13
642 13
617 14
643 14 G643S,
616 14
644 14
615 15
645 15