KCNQ1 Variant C122F

Summary of observed carriers, functional annotations, and structural context for KCNQ1 C122F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

85%

8/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

C122F 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 (%)
-7.23 0.988 -1 0.91 97

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 C122F.
Neighbour residue Distance (Å) Observed variants
122 0 C122Y,
119 4 G119R, G119V,
113 4
121 5
117 6 P117L,
126 6 H126D,
123 6
124 6
125 7
118 7
120 7 W120C, W120C,
114 8
112 8
110 10 V110I,
127 10 F127L, F127L, F127L,
115 10 E115A, E115G,
116 10
128 11 A128del,
109 11 R109C, R109L,
129 11 V129I,
111 11 Y111C,
243 12 R243H, R243C, R243P, R243S,
108 12 G108S,
174 12 R174H, R174C, R174L,
170 12
241 12 V241F, V241I, V241G
130 14
244 14
173 14
177 14 S177F,
106 14
131 14
107 15 Q107H, Q107H,
242 15 D242N, D242Y,
166 15 F166V,