KCNQ1 Variant A384D

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A384D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

48%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

A384D 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 (%)
-4.76 0.984 -1 0.805 50

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 A384D.
Neighbour residue Distance (Å) Observed variants
384 0
383 4
385 4 E385K,
515 6
381 6 C381Y,
392 6 W392R, W392R, W392ins
518 6 R518Q, R518G,
386 6 N386K, N386K,
387 7 P387T,
382 7
391 7 T391A, T391I,
389 8 S389P,
514 8 I514T,
379 9 W379R, W379R, W379C, W379C, W379G,
380 9 R380S, R380S, R380G,
511 9 R511Q, R511W,
512 9
519 10 R519H, R519C,
378 10 A378T,
388 10 D388H, D388N,
516 10
390 11
377 11
517 11 I517T,
513 11 T513A, T513S, T513S,
510 12 H510R, H510Y,
522 12 Y522S,
508 12 E508G,
521 12
393 13 K393N,
520 14 M520R,
376 14
394 14 I394L,
523 14
509 15 H509Q, H509Q, H509R,