KCNQ1 Variant K598R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 K598R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

78%

9/12 effective observations

Total carriers

2

2 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

K598R has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-1.0 0.771 1 0.744 83

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
32893267 2020 2 None 2 None
30758498 2019 1 None None None
18596570 2008 1 None None None
Literature, cohort, and gnomAD – 2 0 2 –
Variant features alone – 15 3 7 –

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 K598R.
Neighbour residue Distance (Å) Observed variants
598 0 K598R,
597 4
599 4
596 5 E596del, E596K,
600 5 T600M,
595 7 V595L, V595L
601 7
594 8 R594Q, R594P,
602 8
593 8 N593S,
603 8
592 9
604 9
591 10 R591H, R591C, R591L,
605 10
590 11 A590T,
606 11
589 11 G589D, G589S,
607 11 A607T,
588 12 I588F,
608 12
587 13 T587M, T587R,
609 13
586 13 N586D,
610 13
585 14 S585N,
611 14 D611N, D611Y,
584 14 G584S,
612 14
583 15 R583H, R583C, R583G,
613 15