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UniProtKB/Swiss-Prot P15848: Variant p.Leu321Pro

Arylsulfatase B
Gene: ARSB
Variant information

Variant position:  321
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Proline (P) at position 321 (L321P, p.Leu321Pro).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed. {ECO:0000269|PubMed:10036316, ECO:0000269|PubMed:10738004, ECO:0000269|PubMed:11802522, ECO:0000269|PubMed:14974081, ECO:0000269|PubMed:1550123, ECO:0000269|PubMed:1718978, ECO:0000269|PubMed:19259130, ECO:0000269|PubMed:8116615, ECO:0000269|PubMed:8125475, ECO:0000269|PubMed:8541342, ECO:0000269|PubMed:8651289}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MPS6; intermediate form; severe reduction of activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  321
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  533
The length of the canonical sequence.

Location on the sequence:   NGGQTLAGGNNWPLRGRKWS  L WEGGVRGVGFVASPLLKQKG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         NG-GQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKG

Mouse                         NG-GQTRSGGNNWPLRGRKGTLWEGGIRGTGFVASPLLKQK

Rat                           NG-GQTRSGGNNWPLRGRKGTLWEGGIRGAGFVASPLLKQK

Cat                           NG-GQTLAGGNNWPLRGRKWSLWEGGIRGVGFVASPLLKQK

Slime mold                    DGFNENKNNNNN---GGHAILLVASSMDSIDLSDCSIINKD

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 37 – 533 Arylsulfatase B
Metal binding 301 – 301 Calcium
Binding site 318 – 318 Substrate
Disulfide bond 117 – 521
Beta strand 320 – 322


Literature citations

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Isbrandt D.; Arlt G.; Brooks D.A.; Hopwood J.J.; von Figura K.; Peters C.;
Am. J. Hum. Genet. 54:454-463(1994)
Cited for: VARIANTS MPS6 ARG-144; ARG-192; PRO-321 AND TYR-521; CHARACTERIZATION OF VARIANTS MPS6;

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L.; Harmatz P.; Simon J.; Pollard A.; Clements P.R.; Brooks D.A.; Hopwood J.J.;
Hum. Mutat. 23:229-233(2004)
Cited for: VARIANTS MPS6 TYR-86 DEL; CYS-210; PRO-236; CYS-312; GLN-315; PRO-321 AND GLY-484; VARIANTS MET-358; MET-376 AND ASN-384; CHARACTERIZATION OF VARIANTS MPS6 TYR-86 DEL AND CYS-312;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.