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Figure 2 | BMC Medical Genetics

Figure 2

From: Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

Figure 2

Exome sequencing reveals mutations in highly conserved regions of the catalytic domain of MARS. A: MARS mutations in the patient and her parents. The patient is compound heterozygous for the mutations c.1108 T > C, F370L (paternally inherited) and c.1568 T > C, I523T (maternally inherited), see arrows. B: Protein sequence alignment of MARS orthologs. The mutated residues are indicated by arrows and marked in red when conserved. C: Schematic representation of the different domains of MARS. The locations of the mutations, which are in the catalytic domain (orange), are indicated by arrows. The GST-like domain is shown in blue and the tRNA binding domain in green.

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BMC Medical Genetics

ISSN: 1471-2350

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