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Figure 2 Compound heterozygous mutations in ADAM22

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Presentation on theme: "Figure 2 Compound heterozygous mutations in ADAM22"— Presentation transcript:

1 Figure 2 Compound heterozygous mutations in ADAM22
Compound heterozygous mutations in ADAM22 (A) Segregation of the mutations in the family. Arrow indicates the exome-sequenced patient. +, wild-type. (B) Domain structure of ADAM22 and location of the mutations. Exon numbering and mutation positions are based on the longest isoform of ADAM22 (variant 1, NM_021723). (C) ClustalX ( comparison of amino acid sequences surrounding Cys401 shows full conservation of Cys401 (arrow) across different vertebrate species. Fully conserved, strongly similar, and weakly similar amino acid residues are labeled with asterisks, colon, and periods, respectively. Mikko Muona et al. Neurol Genet 2016;2:e46 © 2016 American Academy of Neurology

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