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Fig. 4 | BMC Ophthalmology

Fig. 4

From: A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Fig. 4

Sanger sequencing results and evolutionary profiling of the altered residue. a Chromatograms of the control sample were compared with available members of the studied family. As highlighted in a red box, c.938C > T sequence alteration can easily be seen in a homozygous state (single-peak) in both patients (II.1 & II.6) while proband’s father (I.1) and a healthy sibling (II.3) are carrying the same mutation in a heterozygous state (indicated by double-peaks). b Multiple sequence alignment showing p.T313I change inside a conserved region of the PDE6B protein (red highlighted). RefSeq: Reference Sequence, N: normal, A: affected with RP

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BMC Ophthalmology

ISSN: 1471-2415

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