KCNQ1 Variant T96R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 T96R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

22%

3/17 effective observations

Total carriers

7

1 LQT1 · 6 unaffected

Functional studies

0

Publications with functional data

T96R is present in 4 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-1.34 0.088 0 0.624 23

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
29672598 2018 1 None None None
21070882 2011 3 2 1 None
Literature, cohort, and gnomAD – 7 6 1 –
Variant features alone – 15 8 2 –

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 T96R.
Neighbour residue Distance (Å) Observed variants
96 0 T96R,
95 4 S95G,
97 4
94 5
98 5 R98H,
93 7 I93V,
99 7 P99R, P99Q,
92 8 S92P,
100 8
91 8 V91L
101 8
90 9
102 9
89 10 P89T, P89L,
103 10
88 11 D88E, D88E,
104 11 T104A, T104I,
87 11
105 11
86 12 S86R, S86R, S86R,
106 12
85 13
107 13 Q107H, Q107H,
84 13
108 13 G108S,
83 14
109 14 R109C, R109L,
82 14
110 14 V110I,
81 15 P81L,
111 15 Y111C,