KCNQ1 Variant C214W

Summary of observed carriers, functional annotations, and structural context for KCNQ1 C214W. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

26%

2/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

C214W has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-4.95 1.0 -2 0.611 22

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 8 2 –

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 C214W.
Neighbour residue Distance (Å) Observed variants
214 0 C214Y,
215 5 V215M, V215G, V215L, V215L
213 5
211 5
216 6 G216R,
210 6 M210I, M210I, M210I,
212 6
209 8 S209P,
221 9
161 9
217 9
208 9 A208V,
219 10 G219E,
222 10
157 10 F157C,
207 10 V207M, V207L, V207L, V207L, V207L, V207del,
226 10 A226V,
218 11
164 11
225 11 S225L, S225del,
160 12 E160del, E160K, E160V,
206 12 V206L,
230 12
220 12 Q220K,
165 12 V165M,
223 13
162 13 V162M,
224 14 T224M,
229 14 G229D,
205 14 V205M,
233 14 L233P,
227 14
158 15
163 15
156 15