EC Number   |
Protein Variants |
Reference |
|---|
   3.2.1.50 | E601A |
mutation in the active site, lack of enzymatic activity |
694897 |
| 3.2.1.50 | G304V |
decrease in enzymatic activity |
697417 |
| 3.2.1.50 | M1K |
decrease in enzymatic activity |
697417 |
| 3.2.1.50 | more |
deletion of the C-terminal region containing several carbohydrate-binding module 32 domains significantly reduces the activity for porcine gastric mucin,while activity against GlcNAc1,4-(1-methoxyphenyl)Gal is markedly enhanced. A deletion construct containing the C-terminal carbohydrate-binding module-C2 to carbohydrate-binding module-C6 domains binds strongly to porcine gastric mucin |
-, 715655 |
| 3.2.1.50 | more |
expression of human NaGlu in the central nervous system of mucopolysaccharidosis IIIB mice by an i.c. injection approach |
715785 |
| 3.2.1.50 | more |
NAGLU-encoding gene: geneotyping and identification of a large homozygous intragenic deletion mutation in the alpha-N-acetylglucosaminidase gene, causing enzyme deficiency, involved in the autosomal recessive disease Sanfilippo type B syndrome, i.e. mucopolysaccharidosis IIIB, in a Turkish patient, phenotype,overview |
709965 |
| 3.2.1.50 | mutagenesis of Glu-483 |
mutation in the active site, less enzymatic activity |
694897 |
| 3.2.1.50 | R234C |
decrease in enzymatic activity |
697417 |
| 3.2.1.50 | R533X |
no enzymatic activity |
697417 |
| 3.2.1.50 | R565P |
naturally occurring mutation, five patients with the homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan show the Sanfilippo type B syndrome, heterozygotes show no phenotype |
665908 |
