KCNQ1 Variant G229A

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G229A. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

42%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

G229A has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-5.77 0.901 -1 0.869 45

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 6 4 –

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 G229A.
Neighbour residue Distance (Å) Observed variants
229 0 G229D,
230 4
225 5 S225L, S225del,
232 5
233 5 L233P,
228 5
226 5 A226V,
231 6 R231C, R231H, R231S,
227 7
212 7
234 8 Q234H, Q234H,
208 8 A208V,
209 8 S209P,
278 9 Y278H,
224 9 T224M,
235 9 I235N,
236 9 L236Q, L236R,
205 10 V205M,
282 10 L282P,
222 10
221 10
237 10
211 10
223 10
213 10
140 10 S140G, S140R, S140R, S140R,
160 11 E160del, E160K, E160V,
279 11 F279I,
204 11 I204M, I204F,
275 12 F275del,
281 12 Y281C
207 12 V207M, V207L, V207L, V207L, V207L, V207del,
299 12
137 12 L137F, L137P,
144 12 T144A,
136 12
206 12 V206L,
215 13 V215M, V215G, V215L, V215L,
143 13 S143F, S143P, S143Y,
156 13
216 13 G216R,
210 13 M210I, M210I, M210I,
285 13
164 13
219 14 G219E,
141 14 V141M,
214 14 C214Y,
157 14 F157C,
274 14 I274V,
283 14 A283G, A283T,
217 14
201 14 I201del,
277 14 S277L, S277del, S277P, S277W,
220 14 Q220K,
238 14 M238V, M238L, M238L,
161 14
239 14
153 14 T153M,
280 15 V280A, V280E,
133 15 V133I,
276 15 S276del,
163 15