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Egyptian Journal of Medical Human Genetics
Fig. 3 | Egyptian Journal of Medical Human Genetics

Fig. 3

From: Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

Fig. 3

A Three-dimensional structure pattern MTR protein. The mutated amino acids at the mutation site are represented by gray sticks, while the amino acids with polar interactions with the mutated amino acids are represented by yellow sticks. In the wild-type, polar interactions exist between Arg802 and Ile775, Gly773. In the p.Arg802Gln mutant type, a new polar interaction occurs between Gln802 and Thr774, potentially leading to structural changes in the protein and affecting its normal physiological function. B The splicing site mutation (c.1812 + 3A > G) and missense mutation lead to exons skipping on RNA processing

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