KCNQ1 Variant C180Y

Summary of observed carriers, functional annotations, and structural context for KCNQ1 C180Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

53%

5/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

C180Y has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-9.81 0.995 -2 0.97 59

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 5 5 –

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 C180Y.
Neighbour residue Distance (Å) Observed variants
180 0
179 4 G179S,
181 5 R181C,
108 5 G108S,
178 5 A178T, A178del,
111 6 Y111C,
177 6 S177F,
107 7 Q107H, Q107H,
182 7
184 8 Y184S, Y184C, Y184D, Y184H
112 8
110 9 V110I,
105 9
185 9 V185L, V185L, V185M, V185del,
106 9
104 10 T104A, T104I,
183 10 K183R,
116 10
190 10 R190W, R190Q, R190L,
109 10 R109C, R109L,
115 10 E115A, E115G,
193 11 F193L, F193L, F193L,
186 11 G186R, G186D,
189 11 G189R, G189R, G189E,
114 11
175 11 L175I,
176 11
174 12 R174H, R174C, R174L,
173 12
113 13
188 13 W188C, W188C, W188G, W188S,
117 14 P117L,
244 14
192 14 R192C, R192H,
172 15 V172M, V172E,
187 15 L187P, L187F,