KCNQ1 Variant P73T

Summary of observed carriers, functional annotations, and structural context for KCNQ1 P73T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

14%

5/38 effective observations

Total carriers

28

2 LQT1 · 26 unaffected

Functional studies

0

Publications with functional data

P73T is present in 25 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 3 individuals with LQT1 and 7 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.79 0.001 0 0.566 31

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
29197658 2018 5 None 5 None
24667783 2015 2 1 1 None
24606995 2014 1 None 1 None
22949429 2012 1 None 1 None
19841300 2009 1 None 1 None
19716085 2009 4 None 4 None
Literature, cohort, and gnomAD – 28 26 2 –
Variant features alone – 15 7 3 –

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 P73T.
Neighbour residue Distance (Å) Observed variants
73 0 P73T, A73del, P73S,
72 4
74 4
71 5 A71T, A71S, A71V,
75 5
70 7
76 7 A76T,
69 8
77 8 S77F,
68 8
78 8 D78H,
67 9 P67L,
79 9
66 10 S66Y, S66F,
80 10
65 11 A65V,
81 11 P81L,
64 11 P64del,
82 11
63 12
83 12
62 13 A62V,
84 13
61 13 P61T,
85 13
60 14
86 14 S86R, S86R, S86R
59 14
87 14
58 15 A58P,
88 15 D88E, D88E,