KCNQ1 Variant V241G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 V241G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

45%

4/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

V241G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

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

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-6.44 0.999 -4 0.945 46

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 0 1 –
Variant features alone – 15 7 3 –

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 V241G.
Neighbour residue Distance (Å) Observed variants
241 0 V241F, V241I, V241G,
242 5 D242N, D242Y,
130 6
243 6 R243H, R243C, R243P, R243S,
240 6 H240R, H240P,
239 7
238 7 M238V, M238L, M238L,
126 7 H126D,
267 8 Y267C
129 8 V129I,
133 9 V133I,
247 9 T247I,
248 9 W248C, W248C, W248R, W248R,
245 9 G245V,
198 9 I198V, I198T,
127 10 F127L, F127L, F127L,
246 10
244 10
128 10 A128del,
134 10 L134P,
271 10
237 10
131 11
123 11
115 11 E115A, E115G,
117 11 P117L,
202 11 D202N, D202H,
125 11
236 11 L236Q, L236R,
114 11
132 11 I132L,
268 12 I268V, I268S,
201 12 I201del,
167 12
264 12
235 12 I235N,
170 12
174 12 R174H, R174C, R174L,
122 12 C122Y,
124 13
199 13 S199A,
137 13 L137F, L137P,
263 13
113 13
205 14 V205M,
270 14 F270S,
234 14 Q234H, Q234H,
197 14 P197L,
196 14
166 14 F166V,
249 14 R249S, R249S,
274 14 I274V,
136 14
116 14
269 14 G269D, G269S, G269del,
275 14 F275del,
266 14 L266P,
135 14
119 15 G119R, G119V,
118 15
163 15
171 15
233 15 L233P,
265 15 T265I,
272 15 G272D, G272S, G272V,