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Literature summary for 3.1.6.12 extracted from

  • Litjens, T.; Hopwood, J.J.
    Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfate (2001), Hum. Mutat., 18, 282-295.
    View publication on PubMed
Search for more literature for 3.1.6.12

Protein Variants

Protein Variants Comment Organism
C117R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, severe phenotype Homo sapiens
C192R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype Homo sapiens
C405Y mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L236P, mild phenotype Homo sapiens
C521Y mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype. Second mutation R152W, intermediate phenotype Homo sapiens
E421X mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
G137V mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
G144R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype Homo sapiens
G302R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype Homo sapiens
H393P mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation R95Q, severe phenotype. Second mutation Y210C, intermediate phenotype Homo sapiens
L236P mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation C405Y, mild phenotype Homo sapiens
L321P mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
L360P mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation R152W and S384N, mild phenotype Homo sapiens
L498P mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation T92M, mild phenotype Homo sapiens
L72Q mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of L72Q and 219delC/221-230delCGCTGGCGGC on same allele and 743delC on other allele, severe phenotype Homo sapiens
L98P mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation 245delT, intermediate phenotype Homo sapiens
M142I mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype Homo sapiens
additional information the vast majority of mucopolysaccharidosis type VI mutant alleles are either unique to a patient or are present in a small number of patients Homo sapiens
P116H mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype Homo sapiens
P531R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype Homo sapiens
Q456X mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
Q503X mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
R152W mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation 237-243delGGTGCTC or C521Y, intermediate phenotype. Second mutation L360P or S384N, mild phenotype Homo sapiens
R160Q mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype Homo sapiens
R160X mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
R315Q mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
R315X mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype Homo sapiens
R513X mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype Homo sapiens
R95Q mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, severe phenotype Homo sapiens
R95Q mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutazion Y210C alleles, mild phenotype Homo sapiens
S320R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
S384N mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype Homo sapiens
S65F mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype Homo sapiens
T92M mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L489P, mild phenotype Homo sapiens
W146L mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, svere phenotype Homo sapiens
W146R mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype Homo sapiens
W146S mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, mild phenotype Homo sapiens
W146X second mutation Y210C, mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype Homo sapiens
Y210C mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, intermediate phenotype. Second mutation R95Q, mild phenotype Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase. Mutations in the N-acetylgalactosamine-4-sulfatase gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded glycosaminoglycan, dermatan sulfate, and chondroitin 4-sulfate ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P15848
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase. Mutations in the N-acetylgalactosamine-4-sulfatase gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded glycosaminoglycan, dermatan sulfate, and chondroitin 4-sulfate Homo sapiens ?
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 ?