KCNQ1 Variant A226G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A226G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

71%

7/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

A226G 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 (%)
-3.81 1.0 0 0.899 76

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 A226G.
Neighbour residue Distance (Å) Observed variants
226 0 A226V,
225 4 S225L, S225del,
227 4
222 4
230 5
212 5
229 5 G229D,
223 6
228 6
221 7
224 7 T224M,
213 7
231 7 R231C, R231H, R231S,
216 8 G216R,
215 8 V215M, V215G, V215L, V215L,
209 9 S209P,
217 9
219 9 G219E,
211 9
233 9 L233P,
208 9 A208V,
160 10 E160del, E160K, E160V,
157 10 F157C,
234 10 Q234H, Q234H,
232 10
214 10 C214Y,
220 11 Q220K,
156 11
153 11 T153M,
140 11 S140G, S140R, S140R, S140R,
218 11
143 11 S143F, S143P, S143Y,
210 12 M210I, M210I, M210I,
161 12
144 12 T144A,
205 13 V205M,
282 13 L282P,
154 13
237 13
278 13 Y278H,
152 13
207 13 V207M, V207L, V207L, V207L, V207L, V207del,
164 13
136 13
235 13 I235N,
285 14
149 14
236 14 L236Q, L236R,
281 14 Y281C
206 14 V206L,
159 14 M159del,
155 14
141 15 V141M,
137 15 L137F, L137P,
299 15
204 15 I204M, I204F,