KCNQ1 Variant D317Y

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D317Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

79%

8/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

D317Y has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-8.46 1.0 -5 0.978 87

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
32893267 2020 1 None 1 None
30758498 2019 2 None 2 None
Literature, cohort, and gnomAD – 1 0 1 –
Variant features alone – 15 3 7 –

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 D317Y.
Neighbour residue Distance (Å) Observed variants
316 9 G316E, G316R, G316R, G316V,
319 11 V319L, V319L,
317 12 D317N, D317G, D317Y,
314 12 G314S, G314D, G314C, G314del,
315 13 Y315C, Y315S, Y315N, Y315H, Y315F
320 13 P320H, P320A, P320S,
318 14
322 14 T322M, T322A, T322K,
284 14 E284K,
321 14
326 14
325 14 G325R, G325R, G325E, G325W,
288 14
290 14 E290K,
305 14 W305S, W305L, W305C, W305C, W305R, W305R,
289 14
329 15 A329T,
294 15 V294M,
287 15 A287E, A287T, A287S,
295 15