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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P15848 | - |
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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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