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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

Fig. 2

Integrative protein structure modeling for two variants identified in individuals with retinal dystrophy. Affected amino acids are highlighted in red. a Model of the RP2 c.260_268del, p. (Thr87_Cys89del) variant. The main chain backbone atoms (white/grey lines) and the hydrogen bond network (brown lines) of the affected protein region are shown. The variant is found in an extended set of β-sheets that form a complex set of hydrogen bonds. b Homology model of the FSCN2 c.1071_1073del, p. (Lys357del) variant. The main chain backbone atoms (white/grey lines) of a small part of the protein is shown. The deletion affects a residue in a surface loop, away from known functional or interaction sites

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