PMC7511713_01
Sanger sequencing results in ADAMTS13 of our patient, his older sister and his parents. The patient, his older sister and his farther had mutation of c.577C>T, while the patient, his older sister and his mother had mutation of c.2397C>A.
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F1
Mutation analysis revealed that both the patient and his sister harbored the same compound heterozygous ADAMTS13 mutation: c.2397C>A and c.577C>T, inherited from his mother and father, respectively (Figure 1).
SWISS-MODEL-predicted structures of ADAMST13WT
(A) and ADAMST13 p.R193W
(B). Tryptophan (a basic amino acid with molecular weight of 204) in substitution for arginine (an aromatic amino acid, with molecular weight of 174) changed the molecular weight, polarization and folding, probably leading to accelerated protein degradation.
fped-08-00554-g0002.jpg
PMC7511713_01_fped-08-00554-g0002.jpg
F2
Molecular modeling analysis using the SWISS-MODEL indicated that tryptophan (a basic amino acid with molecular weight of 204) in substitution for arginine (an aromatic amino acid, with molecular weight of 174) changed the molecular weight, polarization, and folding, probably leading to accelerated protein degradation (Figure 2).