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Fig. 2 | BMC Ophthalmology

Fig. 2

From: Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report

Fig. 2

Mutation analysis of ARSB. a, b There were two mutations in the ARSB gene, i.e. c.1325G > A (p.Thr442Met) (M1) and c.1197G > C (p.Phe399Leu) (M2). Sequencing results showed that c.1325G > A (p. Thr442Met) was inherited from the mother, whereas c.1197G > C (p. Phe399Leu) was inherited from the father. c, d Mutant amino acids (No. 399, phenylalanine and No. 442, threonine) are highly conserved across species. e, f, g, h Molecular modeling of the (e, f) wild-type and (g, h) mutant ARSB protein. Structural modeling of the ARSB protein demonstrated that mutation of amino acid No. 399 (phenylalanine) resulted in the breakage of hydrogen bonds, and mutation of amino acid No. 442 (threonine) resulted in the partial breakage of hydrogen bonds

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