KCNQ1 Variant P117L

Summary of observed carriers, functional annotations, and structural context for KCNQ1 P117L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

86%

10/12 effective observations

Total carriers

2

2 LQT1 · 0 unaffected

Functional studies

1

Publications with functional data

P117L 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 (%)
-7.81 0.998 -2 0.926 95

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
32893267 2020 1 None 1 None
30758498 2019 5 None 5 None
19716085 2009 1 None 1 None
19114714 2009 None None None None
17192539 2006 1 None 1 None
17053194 2006 None None None None
Literature, cohort, and gnomAD – 2 0 2 –
Variant features alone – 15 2 8 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Functional data

Functional assay results from published electrophysiology studies. HM indicates homomeric channels, HT indicates heteromeric channels.

Homomeric channel data

Published electrophysiology measurements (homomeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

Heteromeric channel data

Published electrophysiology measurements (heteromeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

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 P117L.
Neighbour residue Distance (Å) Observed variants
117 0 P117L,
118 5
122 6 C122Y,
116 6
119 6 G119R, G119V,
112 6
113 7
115 7 E115A, E115G,
126 7 H126D,
114 7
123 8
243 9 R243H, R243C, R243P, R243S,
111 9 Y111C,
244 9
125 10
121 10
120 10 W120C, W120C,
110 10 V110I,
241 11 V241F, V241I, V241G
124 11
174 11 R174H, R174C, R174L,
242 11 D242N, D242Y,
108 11 G108S,
246 11
245 12 G245V,
127 12 F127L, F127L, F127L,
109 12 R109C, R109L,
177 13 S177F,
129 13 V129I,
170 13
181 14 R181C,
247 14 T247I,
128 14 A128del,
180 14
198 14 I198V, I198T,
130 14
240 14 H240R, H240P,
173 14
178 15 A178T, A178del,
107 15 Q107H, Q107H,