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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15848: Variant p.Leu236Pro

Arylsulfatase B
Gene: ARSB
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Variant information Variant position: help 236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Proline (P) at position 236 (L236P, p.Leu236Pro). 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: help 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: help -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
Variant description: help In MPS6; mild form. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 533 The length of the canonical sequence.
Location on the sequence: help TKRAIALITNHPPEKPLFLY L ALQSVHEPLQVPEEYLKPYD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TKRAIALITNHPPEKPLFLYL--ALQSVHEPLQVPEEYLKPYD

Mouse                         TKRATTVIANHPPEKPLFLYL--AFQSVHDPLQVPEEYMEP

Rat                           TKRATTLIANHPPEKPLFLYL--AFQSVHDPLQVPEEYMEP

Cat                           TERATALITSHPPEKPLFLYL--ALQSVHEPLQVPEEYLKP

Slime mold                    S----SILGVCLNTILLLLYFKKDLKNLNSNFNQLIETVNP
Sequence annotation in neighborhood: help 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
Binding site 242 – 242
Disulfide bond 117 – 521
Beta strand 232 – 237



Literature citations
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Jin W.-D.; Jackson C.E.; Desnick R.J.; Schuchman E.H.;
Am. J. Hum. Genet. 50:795-800(1992)
Cited for: VARIANTS MPS6 ARG-117; PRO-236 AND TYR-405; 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.