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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

  • This publication is provided for historical reference only and the information may be out of date.

This publication is provided for historical reference only and the information may be out of date.

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Figure 1. . Vitreoretinopathy-associated pathogenic variants in VCAN and their effects on naturally occurring splice variants and protein isoforms.

Figure 1.

Vitreoretinopathy-associated pathogenic variants in VCAN and their effects on naturally occurring splice variants and protein isoforms. Under normal conditions, differential splicing leads to four transcript variants and protein isoforms V0, V1, V2, or V3, depending on the presence of exon 7 (red) and/or exon 8 (green). Attachment of glycosaminoglycan residues (GAGs; black vertical lines) modifies the protein to function in water inclusion. Pathogenic variants (black single-line vertical arrows pointing downward) lead to skipping of exon 8 and yielding increased amounts of variants V2 and V3. The effects of the variants on isoform expression (decrease or increase) are displayed by vertical turquoise arrows. An imbalanced quantitative ratio of these variants is a result of the pathogenic variants. Schematic lines are not drawn to scale. Exon sizes are given in nucleotides (nt). Protein isoform length is given by number of amino acid (aa) residues beneath each isoform. c.4004 and c.9265 are the first and last nucleotide of exon 8.

From: VCAN-Related Vitreoretinopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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