KCNQ1 Variant R243S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 R243S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

73%

8/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

R243S 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 (%)
-5.83 1.0 -1 0.961 78

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
32893267 2020 1 None 1 None
19490272 2009 1 None 1 None
Literature, cohort, and gnomAD – 1 0 1 –
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 R243S.
Neighbour residue Distance (Å) Observed variants
243 0 R243H, R243C, R243P, R243S,
242 5 D242N, D242Y,
244 5
115 6 E115A, E115G,
198 6 I198V, I198T,
241 6 V241F, V241I, V241G,
240 7 H240R, H240P,
245 7 G245V,
114 8
174 8 R174H, R174C, R174L,
126 8 H126D,
202 8 D202N, D202H,
117 9 P117L,
246 9
199 9 S199A,
239 9
196 9
248 9 W248C, W248C, W248R, W248R,
116 10
201 10 I201del,
247 10 T247I,
170 10
197 10 P197L,
111 10 Y111C,
129 11 V129I,
130 11
171 11
193 11 F193L, F193L, F193L,
113 11
125 11
112 12
249 12 R249S, R249S,
238 12 M238V, M238L, M238L,
167 12
122 12 C122Y,
200 12
267 12 Y267C
123 13
194 13 A194P, A194T,
237 13
236 13 L236Q, L236R,
177 13 S177F,
118 13
175 13 L175I,
173 13
133 13 V133I,
110 13 V110I,
127 14 F127L, F127L, F127L,
203 14 L203P,
205 14 V205M,
178 14 A178T, A178del,
128 14 A128del,
119 14 G119R, G119V,
168 14 G168R, G168R, G168R, G168R,
181 14 R181C,
166 14 F166V,
184 14 Y184S, Y184C, Y184D, Y184H,
271 14
268 14 I268V, I268S,
264 15
204 15 I204M, I204F,
172 15 V172M, V172E,
124 15
206 15 V206L,