PMC8654191_01
PMC8654191_02
PMC8654191_03
Genetic analysis results: (A) heterozygous mutation of COPA gene in the patient; (B) there was no mutation in the COPA gene of his father; (C) there was no mutation in the COPA gene of his mother; (D) Protein conformation after amino acid mutation. The different uppercase letters represent base pairs, arrows A, B and C represent the 841st base, mutation occurs at site A, and no mutation occurs at site B and C.
fped-09-773112-g0002.jpg
PMC8654191_03_fped-09-773112-g0002.jpg
F2
The heterozygous mutation of COPA gene in c.841C>T was detected in exon 9, as evidenced by the mutation of arginine at position 281 into tryptophan (p.R281W) (Figure 2A). The conservative analysis indicated that the arginine at position 281 was located in a highly evolutionary-conservative region (Figures 2D, 3), suggesting that the c.841C>T (p.R281W) mutation might have dysregulated the function of However, Sanger sequencing verified no heterozygous mutation of c.841C>T (p.R281W) in his parents, confirming the de novo mutation of this autosomal dominant (AD) disease (Figures 2B,C).
Conservation: amino acids level for non-synonymous changes.
fped-09-773112-g0003.jpg
PMC8654191_03_fped-09-773112-g0003.jpg
F3
The conservative analysis indicated that the arginine at position 281 was located in a highly evolutionary-conservative region (Figures 2D, 3), suggesting that the c.841C>T (p.R281W) mutation might have dysregulated the function of