Illustration from Scientific Research

Schematic representation of the canine PRKAA2 protein (ENSCAFP00000027993.4, F1PIW7) and the predicted amino acid sequences of the aberrant transcripts. The r.729_1024del variant is predicted to result in truncation upstream of the UBA-like autoinhibitory domain, and the c.1359-1360ins(?) transcript is predicted to contain a premature stop codon before the C-terminal regulatory domain involved in heterotrimerization. Positions corresponding to potentially damaging variants in human cardiomyopathy patients are indicated with black lines. ENSCAFT00000030121.4 was used as a reference sequence for the mutant transcripts, and domain annotation was obtained from CDD

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