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Literature summary for 3.2.1.50 extracted from

  • Mangas, M.; Nogueira, C.; Prata, M.J.; Lacerda, L.; Coll, M.J.; Soares, G.; Ribeiro, G.; Amaral, O.; Ferreira, C.; Alves, C.; Coutinho, M.F.; Alves, S.
    Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula (2008), Clin. Genet., 73, 251-256.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
G304V decrease in enzymatic activity Homo sapiens
M1K decrease in enzymatic activity Homo sapiens
R234C decrease in enzymatic activity Homo sapiens
R533X no enzymatic activity Homo sapiens
R565W decrease in enzymatic activity Homo sapiens
R643C decrease in enzymatic activity Homo sapiens
S522P decrease in enzymatic activity Homo sapiens
W147X no enzymatic activity Homo sapiens
W168X decrease in enzymatic activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-
peripheral blood
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
0.15-0.483 mmol/min/mg no mutation Homo sapiens
-
-
mutant with genotype R234C/G304V Homo sapiens
-
-
mutant with genotype R533X/R533X Homo sapiens
-
-
mutant with genotype W147X/W147X Homo sapiens
0.001
-
mutant with genotype W168X/S522P Homo sapiens
0.00117
-
mutant with genotype R643C/R533X Homo sapiens
0.0017
-
mutant with genotype R234C/R234C Homo sapiens
0.0025
-
mutant with genotype R234C/R234C Homo sapiens
0.0027
-
mutant with genotype R234C/M1K Homo sapiens
0.003
-
mutant with genotype R565W/R565W Homo sapiens
0.00317
-
mutant with genotype R565W/R565W Homo sapiens

Synonyms

Synonyms Comment Organism
alpha-N-acetylglucosaminidase
-
Homo sapiens
glycosidase
-
Homo sapiens
NAGLU
-
Homo sapiens