KCNQ1 Variant K358T

Summary of observed carriers, functional annotations, and structural context for KCNQ1 K358T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

61%

6/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

K358T is present in 1 alleles 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 (%)
-5.12 0.977 3 0.914 69

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 – 1 1 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 K358T.
Neighbour residue Distance (Å) Observed variants
257 12 I257V,
359 12 Q359del,
258 12 H258P, H258N, H258R, H258Y,
363 13 H363N,
254 13 V254M, V254L, V254L,
264 13
260 13
249 14 R249S, R249S,
261 14 E261K, E261D, E261D, E261G, E261Q,
246 14
535 14
256 14
263 14
247 14 T247I
253 15 S253A, S253P,
357 15 Q357H, Q357H,
364 15 F364L, F364L, F364L, F364S,
353 15 L353P,
259 15 R259C, R259H, R259L, R259G,