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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family

Fig. 3

Sequence analysis of the family and the predicted structure of the mutated protein. a, Sequencing chromatograms of affected members (V1, V2, IV3), unaffected members (IV1, III4, IV6, V4), and carriers (IV2, III5, IV5, V3) from this family. The red arrow indicates the locus of the c.216_217del variant, and the red box indicates the corresponding normal sequence. b, the predicted secondary structure of the normal TRAPPC2 protein. c, the predicted secondary structure of the mutated TRAPPC2 protein (p. S73Gfs*15)

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BMC Medical Genetics

ISSN: 1471-2350

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