KCNQ1 Variant I500V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 I500V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

8%

0/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

I500V is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.07 0.018 0 0.654 0

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 10 0 –

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 I500V.
Neighbour residue Distance (Å) Observed variants
500 0 I500L, I500V,
499 4 P499S,
501 4 T501A,
498 5
502 5
497 7 L497P,
503 7
496 8
504 8
495 8 T495S, T495S, T495A,
505 8 Q505R,
494 9
506 9
493 10 G493A,
507 10 R507Q, R507W,
492 11 L492ins,
508 11 E508G,
491 11
509 11 H509Q, H509Q, H509R,
490 12
510 12 H510R, H510Y,
489 13
511 13 R511Q, R511W,
488 13 D488E, D488E,
512 13
487 14 E487K,
513 14 T513A, T513S, T513S
486 14 A486T,
514 14 I514T,
485 15 F485S,
515 15