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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Causative variant profile of collagen VI-related dystrophy in Japan

Fig. 2

modified from Lampe et al. [14]).

Schematic domain structure of collagen VI polypeptide chains and localization of the identified mono-allelic variants. The identified missense variants and small in-frame deletions are indicated by triangles. Large genomic deletions, exonic deletions by splicing variants, and pseudoexon insertions are indicated by rectangles. Previously reported variants are shown in pink and novel ones in yellow. A single cysteine residue (C) in each triple helical domain (THD) is important for molecular assembly. Most mono-allelic variants are clustered in the N-terminal side of or around the cysteine residue in the THD. (Figure is

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