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Fig. 2 | Hereditas

Fig. 2

From: Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Fig. 2

Validation of gene mutations and prediction of pathogenicity. (a) Sanger sequencing verification results of the proband’s couple and the proband’s parents. (b) 3D structure of P protein. The amino acid at position 481st changed from alanine to threonine, and the 420th amino acid changed from glycine to arginine (Seq identity: 99.76%, GMQE: 0.74). (c) Conserved analysis of gene mutation sites and PolyPhen-2 prediction analysis (The higher the score, the higher the pathogenicity)

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Hereditas

ISSN: 1601-5223

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