KCNQ1 Variant C331W

Summary of observed carriers, functional annotations, and structural context for KCNQ1 C331W. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

41%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

C331W 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 (%)
-8.78 1.0 -2 0.801 43

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 C331W.
Neighbour residue Distance (Å) Observed variants
331 0
330 4
329 6 A329T,
328 6 I328del,
327 6 T327A, T327S, T327S,
325 9 G325R, G325R, G325E, G325W,
279 10 F279I,
324 10
326 10
332 12
333 12
323 12
334 12 V334A
336 13 A336S,
320 13 P320H, P320A, P320S,
310 13 V310I,
276 13 S276del,
335 13 F335L, F335L, F335L,
273 13 L273F, L273V, L273R,
306 13 G306V, G306R, G306R,
309 13 T309I, T309R,
278 13 Y278H,
307 13 V307L, V307L,
272 13 G272D, G272S, G272V,
322 14 T322M, T322A, T322K,
283 14 A283G, A283T,
340 14 F340del, F340L, F340L, F340L, F340S,
277 14 S277L, S277del, S277P, S277W,
269 14 G269D, G269S, G269del,
282 14 L282P,
270 15 F270S,
308 15 V308F,
274 15 I274V,