KCNQ1 Variant A194V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A194V. 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

A194V 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 (%)
-1.07 0.951 0 0.677 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 A194V.
Neighbour residue Distance (Å) Observed variants
194 0 A194P, A194T,
193 5 F193L, F193L, F193L,
199 5 S199A,
195 5 R195Q, R195W,
191 6
200 6
196 6
175 8 L175I,
197 8 P197L,
171 8
189 8 G189R, G189R, G189E,
192 8 R192C, R192H,
203 8 L203P,
190 8 R190W, R190Q, R190L,
184 9 Y184S, Y184C, Y184D, Y184H
198 9 I198V, I198T,
202 9 D202N, D202H,
201 10 I201del,
178 10 A178T, A178del,
187 10 L187P, L187F,
174 10 R174H, R174C, R174L,
204 11 I204M, I204F,
183 11 K183R,
188 11 W188C, W188C, W188G, W188S,
172 11 V172M, V172E,
186 12 G186R, G186D,
115 12 E115A, E115G,
177 12 S177F,
244 13
243 13 R243H, R243C, R243P, R243S,
181 13 R181C,
185 13 V185L, V185L, V185M, V185del,
206 13 V206L,
111 13 Y111C,
173 13
176 13
179 13 G179S,
168 13 G168R, G168R, G168R, G168R,
240 14 H240R, H240P,
205 14 V205M,
207 14 V207M, V207L, V207L, V207L, V207L, V207del,
170 14
114 14