KCNQ1 Variant D242H

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D242H. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

74%

7/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

D242H 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 (%)
-6.8 1.0 -2 0.904 80

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 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 D242H.
Neighbour residue Distance (Å) Observed variants
242 0 D242N, D242Y,
245 5 G245V,
241 5 V241F, V241I, V241G,
248 5 W248C, W248C, W248R, W248R,
243 5 R243H, R243C, R243P, R243S,
247 5 T247I,
246 5
239 7
244 7
267 7 Y267C
198 7 I198V, I198T,
240 8 H240R, H240P,
268 9 I268V, I268S,
249 9 R249S, R249S,
238 9 M238V, M238L, M238L,
264 10
271 10
130 10
115 10 E115A, E115G,
126 11 H126D,
201 11 I201del,
197 11 P197L,
196 11
250 11 L250H, L250P,
117 11 P117L,
202 11 D202N, D202H,
251 12 L251P, L251Q,
199 12 S199A,
263 12
236 12 L236Q, L236R,
265 13 T265I,
116 13
129 13 V129I,
114 13
269 13 G269D, G269S, G269del,
174 13 R174H, R174C, R174L,
252 13 G252R,
133 13 V133I,
237 13
123 13
266 14 L266P,
260 14
127 14 F127L, F127L, F127L,
200 14
235 14 I235N,
270 14 F270S,
272 14 G272D, G272S, G272V,
275 14 F275del,
261 14 E261K, E261D, E261D, E261G, E261Q,
134 14 L134P,
253 14 S253A, S253P,
125 15
122 15 C122Y,
170 15
118 15
111 15 Y111C,
167 15