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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: Eur J Med Genet. 2013 Mar 19;56(6):292–296. doi: 10.1016/j.ejmg.2013.03.002

Figure 2.

Figure 2

MYOC Val251Ala mutation causes non-secretion of protein into the aqueous humor. Nearly undetectable lelels of myocilin in AH of patient with Val251Ala MYOC mutation. Western analysis blot (A)of myocilin protein (upper panel) shows no detectable bands faint bands slightly above background in the AH samples of the patient with Val251Ala MYOC mutation (G1 and G2) in comparison with normal controls (N1, N2 and N3), and two JOAG patients (G3 and G4) that do not carry pathogenic MYOC mutations, but similar band intensities for transferrin as internal control (lower panel). G1 and G2 represent AH samples from left eye and right eye of the patient III-3 shown in Fig. 1A, obtained on separate surgeries. Recombinant myocilin standards for quantitation ranging from 0 ng to 20 ng are shown in the left-most 5 lanes. Quantitation of Western blot (B) shown in A is displayed as myocilin concentration (black bars) and amount of myocilin as a percentage of total AH proteins (light gray bars) in AH (B).