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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Fig. 2

Structural analysis of the wild-type and MMAA mutant products using three-dimensional modelling. Green dashed lines represent hydrogen bonds, and the green Arabic numbers show the hydrogen bond distances. a A segment of the MMAA structure showing Leu122 hydrogen bonding with Leu188, Ala119, Lys125, and Val126. b A segment showing that Pro122 lost two intramolecular hydrogen bonds, one with Leu188 and one with Ala119, leading to instability of the protein structure

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BMC Medical Genetics

ISSN: 1471-2350

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