KCNQ1 Variant A152D

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A152D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

44%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

A152D 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 (%)
-4.84 0.994 0 0.946 49

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 A152D.
Neighbour residue Distance (Å) Observed variants
152 0
153 4 T153M,
155 5
149 5
151 5
154 5
156 5
150 6 A150T,
143 6 S143F, S143P, S143Y,
139 7
142 8
148 8
140 9 S140G, S140R, S140R, S140R,
159 9 M159del,
157 9 F157C,
144 10 T144A
145 10
146 10 E146K, E146G, E146Q,
136 10
141 10 V141M,
147 10 Q147R,
160 11 E160del, E160K, E160V,
158 11
138 11
135 12
231 12 R231C, R231H, R231S,
217 12
230 12
137 13 L137F, L137P,
234 13 Q234H, Q234H,
227 13
226 13 A226V,
161 13
222 14
213 14
163 15
162 15 V162M,
216 15 G216R,