KCNQ1 Variant A336D

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A336D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

65%

6/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

A336D has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

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

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-4.91 0.996 -1 0.939 71

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 4 6 –

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 A336D.
Neighbour residue Distance (Å) Observed variants
276 9 S276del,
275 12 F275del,
307 12 V307L, V307L,
251 12 L251P, L251Q,
269 12 G269D, G269S, G269del,
266 12 L266P,
270 12 F270S,
330 13
337 13
312 13 T312del, T312I,
334 13 V334A,
273 13 L273F, L273V, L273R,
336 13 A336S,
279 13 F279I,
306 13 G306V, G306R, G306R,
265 14 T265I,
341 14 A341V, A341E,
333 14
338 14 S338F,
310 14 V310I,
331 14
280 14 V280A, V280E,
340 14 F340del, F340L, F340L, F340L, F340S,
329 14 A329T,
332 14
272 14 G272D, G272S, G272V,
262 14 L262P, L262R, L262V,
311 15 T311A, T311I,
252 15 G252R,
248 15 W248C, W248C, W248R, W248R
309 15 T309I, T309R,
278 15 Y278H,