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Mutations generally cause NCL with onset in late infancy or at later ages up to adulthood.
The reference sequences for CLN5 have recently been updated, causing a change in length of the protein from 407 to 358 amino acids; the translation initiation codon has shifted 3', resulting in renumbering of the amino acid residues, and the mRNA nucleotides. To assist those interested in CLN5, the mutation database has prepared a diagram of both versions of the protein, together with residue and nucletide numbers. Affected amino acid residues are also colour-coded according to mutation type, and putative functional areas of the protein are annotated. We hope that this will prove useful. As this has been produced by hand, please inform us of any errors that you find.
Mutation table to download
Patient table to download
CLN5 protein and mRNA numbering - ref sequence versions NM_006493.2 and NM_006493.2.4