Literature summary for 3.1.6.13 extracted from

Alves, S.; Mangas, M.; Prata, M.J.; Ribeiro, G.; Lopes, L.; Ribeiro, H.; Pinto-Basto, J.; Lima, M.R.; Lacerda, L.
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations (2006), J. Inherit. Metab. Dis., 29, 743-754.

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Protein Variants

Protein Variants	Comment	Organism
D148N	mutation identified in patient with mucopolysaccharidosis II	Homo sapiens
D269V	mutation identified in patient with mucopolysaccharidosis II	Homo sapiens
D69V	mutation identified in patient with mucopolysaccharidosis II	Homo sapiens
additional information	analysis of enzyme gene in Portuguese patients with mucopolysaccharidosis type II. Splice mutations at the IDS locus account for almost 56% of cases. Mutations include six intronic splice mutations, c.104?2A>G, c.241?2A>G, c.241?1G>A, c.418+1G>A, c.880?8A>G and c.1181?1G>C, two exonic splice mutations, c.1006G>C and c.1122C>T, five missense mutations, D269V, D69V, D148N, R88C and P86L, one nonsense mutation, Q465Ter, one total IDS gene deletion, and one rearrangement involving a IDS gene inversion	Homo sapiens
P86L	mutation identified in patient with mucopolysaccharidosis II	Homo sapiens
R88C	mutation identified in patient with mucopolysaccharidosis II	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Portuguese patients with mucopolysaccharidosis type II	-

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Release 2023.1 (January 2023)