KCNQ1 Variant E115Q

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E115Q. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

82%

8/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

E115Q has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 8 individuals with LQT1 and 2 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-2.3 0.996 -1 0.869 91

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 2 8 –

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 E115Q.
Neighbour residue Distance (Å) Observed variants
115 0 E115A, E115G,
114 5
111 5 Y111C,
243 6 R243H, R243C, R243P, R243S,
174 6 R174H, R174C, R174L,
244 6
116 6
112 7
117 7 P117L,
113 8
177 8 S177F,
193 9 F193L, F193L, F193L,
110 9 V110I,
178 9 A178T, A178del,
198 9 I198V, I198T,
126 9 H126D,
181 9 R181C,
196 10
170 10
199 10 S199A,
108 10 G108S,
122 10 C122Y,
173 10
242 10 D242N, D242Y,
245 10 G245V,
180 10
175 11 L175I,
184 11 Y184S, Y184C, Y184D, Y184H
241 11 V241F, V241I, V241G,
171 11
118 11
202 11 D202N, D202H,
240 11 H240R, H240P,
125 11
246 12
107 12 Q107H, Q107H,
179 12 G179S,
119 12 G119R, G119V,
194 12 A194P, A194T,
197 13 P197L,
183 13 K183R,
172 13 V172M, V172E,
176 13
190 13 R190W, R190Q, R190L,
109 13 R109C, R109L,
129 13 V129I,
123 14
201 14 I201del,
167 14
249 14 R249S, R249S,
248 14 W248C, W248C, W248R, W248R,
200 14
247 14 T247I,
168 14 G168R, G168R, G168R, G168R,
121 14
239 14
189 14 G189R, G189R, G189E,
169 14 T169M, T169R,
106 14
182 15
166 15 F166V,