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Figure 2 | BMC Medical Genetics

Figure 2

From: Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

Figure 2

Schematic rappresentation of aberrant transcripts and protein products, and relative quantification of the mutated COL6A1 messenger. a) Schematic representation of the out-of-frame COL6A1 transcripts deriving from the two alleles carrying the mutated intron 32 c.2250+1 (allele 1) and exon 33 c.2331 Ins/Dup GCCT (allele 2). The in-frame stop-codons recognized as an effect of the frame-shifting mutations are indicated. b) Schematic representations of the predicted protein products arising from the identified mutations. All truncated a1 (VI) chains lack the C2 subdomain. c) Relative quantification of the mutated COL6A1 messenger with respect to COL6A2 and COL6A3 wild-type transcripts. COL6A1 RNA was reduced to 15% of COL6A2 and COL6A3 mRNA levels, while the COL6A2/COL6A3 ratio (1:1) was similar to that displayed by an unaffected control.

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