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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

Fig. 1

Pedigree and genetic analysis. a Pedigree of the family. Round symbols indicate female; square symbols, male; fully filled symbols, open angle glaucoma; unfilled symbols, unaffected; arrow, proband; plus/minus, presence/absence of the MYOC:p.(Pro254Leu) variant. b Chromatogram showing the presence of MYOC:c.761C > T, p.(Pro254Leu) sequence variant in individual II-1 at the top (affected) and its absence in individual I-1 at the bottom (unaffected). The black arrow marks the heterozygous variant. c. Alignment of MYOC protein sequences corresponding to residues 248 through 262 (NP_000252.1), against different species, and of different human olfactomedin proteins. The residue of interest, p.(Pro254Leu), is highlighted in yellow. Reference sequences IDs of the genes/species aligned are shown in brackets

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