KCNQ1 Variant G154A

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G154A. 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

G154A 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 (%)
-1.08 0.076 0 0.603 51

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 G154A.
Neighbour residue Distance (Å) Observed variants
154 0
155 4
153 4 T153M,
152 5
157 5 F157C,
156 5
151 7
158 7
150 8 A150T,
149 8
159 8 M159del,
217 9
160 10 E160del, E160K, E160V,
161 10
143 10 S143F, S143P, S143Y,
139 10
213 12
216 12 G216R,
162 12 V162M,
140 12 S140G, S140R, S140R, S140R,
136 12
222 12
142 12
148 13
230 13
226 13 A226V,
218 13
163 13
146 14 E146K, E146G, E146Q,
227 14
144 14 T144A
135 14
234 14 Q234H, Q234H,
212 14
231 14 R231C, R231H, R231S,
145 15
138 15
141 15 V141M,
164 15
147 15 Q147R,