KCNQ1 Variant D582G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D582G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

45%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

D582G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-3.87 0.182 -2 0.797 47

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 – 0 0 0 –
Variant features alone – 15 6 4 –

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 D582G.
Neighbour residue Distance (Å) Observed variants
582 0
581 4
583 4 R583H, R583C, R583G,
580 5 S580G, S580N,
584 5 G584S,
579 7
585 7 S585N,
578 8 E578K, E578V,
586 8 N586D,
577 8
587 8 T587M, T587R,
576 9 V576I,
588 9 I588F,
575 10
589 10 G589D, G589S,
574 11 I574V,
590 11 A590T,
573 11 F573L, F573L, F573L,
591 11 R591H, R591C, R591L,
572 12
592 12
571 13 S571L, S571P,
593 13 N593S,
570 13 P570L,
594 13 R594Q, R594P,
569 14 K569E,
595 14 V595L, V595L
568 14 G568R, G568R, G568E,
596 14 E596del, E596K,
567 15 I567T, I567S,
597 15