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. 2021 May 11;16(5):e0251289. doi: 10.1371/journal.pone.0251289

Fig 1. Mutations identified in the multiplex family with CM-1.

Fig 1

(A) Pedigree of the Spanish family including five individuals with CM-1 carrying the heterozygous mutations E2272* in COL6A5, S45G in ADGRB3, R22Q in DST, in the top row; and R1202H in COL7A1 in the bottom row. The arrow head indicates the index case (individual II.4). Healthy individuals are denoted in white and CM-1 affected in black. (B) Electropherograms showing the altered nucleotides (+/mut) and the respective wild type (+/+) sequences. (C) Location and consequence of the alteration in the human transcripts. (D) Evolutionary conservation of the E2272*, R1202H, S45G and R22Q residues in different species demonstrated by protein sequence alignment generated by MUSCLE version 3.6 (using option:-maxiters 2).