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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family

Fig. 2

a Direct sequencing of the WRAP53 gene identified a homozygous mutation (c.C892T, p.R298W) in the proband with DC. b Direct sequencing of the WRAP53 gene revealed that the proband’s parents and sister harbored the heterozygous mutation. c (Top) Location of the mutated nucleotides in the scheme of the WRAP53 nucleotide structure. (Middle) Location of the mutated amino acid in the scheme of the WRAP53 protein structure. (Bottom) Multi-species sequence comparison of WRAP53 shows that R298 is evolutionarily conserved

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BMC Medical Genetics

ISSN: 1471-2350

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