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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Galactosialidosis: review and analysis of CTSA gene mutations

Figure 2

Schematic representation of the CTSA gene transcript variants (fromhttp://www.ncbi.nlm.nih.gov/). The reference transcript for the correct mutations nomenclature is indicated by an arrow. A. Transcript Variant 1 encoding the longer isoform (a) of 498 amino acids (NM_000308.2) is the gene transcript selected by HGMD for mutations nomenclature. Transcript Variant 2 has an alternate splice site in the 5′ region, which results in a downstream AUG start codon, as compared to variant 1 (NM_001127695.1). The resulting isoform (b), gives rise to 480 amino acids. Transcript Variant 3 lacks an alternate in-frame exon in the 5′ coding region, compared to variant 1 (NM_001167594.1). B. The main differences between the three transcripts are outlined.

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