KCNQ1 Variant T513S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 T513S. 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

T513S 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 (%)
-0.06 0.027 1 0.62 14

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
23631430 2013 1 None None None
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 T513S.
Neighbour residue Distance (Å) Observed variants
513 0 T513A, T513S, T513S,
512 4
514 4 I514T,
516 6
510 6 H510R, H510Y,
517 6 I517T,
509 7 H509Q, H509Q, H509R,
515 7
511 8 R511Q, R511W,
518 9 R518Q, R518G,
508 10 E508G,
520 10 M520R,
519 11 R519H, R519C,
392 11 W392R, W392R, W392ins
384 11
521 12
381 13 C381Y,
394 13 I394L,
380 14 R380S, R380S, R380G,
385 14 E385K,
387 14 P387T,
391 14 T391A, T391I,
383 14
523 15