A substitution of serine by alanine at amino-acid position 81 (S81A), corresponding to the human variant of HRC with this substitution at position 96 (T286G) that is associated with higher risk of ventricular arrhythmias, was introduced in the gene. A frt flanked neo cassette was inserted upstream of the mutation and was removed via flp-mediated recombination. (J:243733)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count