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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22304: Variant p.Glu521Val

Iduronate 2-sulfatase
Gene: IDS
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Variant information Variant position: help 521 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 Glutamate (E) to Valine (V) at position 521 (E521V, p.Glu521Val). 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 Change from medium size and acidic (E) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 MPS2; severe form. Any additional useful information about the variant.


Sequence information Variant position: help 521 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 550 The length of the canonical sequence.
Location on the sequence: help VWVGFNPDEFLANFSDIHAG E LYFVDSDPLQDHNMYNDSQG 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                         VWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQG

Mouse                         VWVGFDPSEFLANFSDIHAGELYFVDSDPLQDHNVYNDSQH

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 456 – 550 Iduronate 2-sulfatase 14 kDa chain
Glycosylation 513 – 513 N-linked (GlcNAc...) asparagine
Glycosylation 537 – 537 N-linked (GlcNAc...) asparagine
Alternative sequence 313 – 550 Missing. In isoform 3.
Alternative sequence 344 – 550 Missing. In isoform 2.
Beta strand 511 – 524



Literature citations
Molecular analysis in 23 Hunter disease families.
Lissens W.; Seneca S.; Liebaers I.;
J. Inherit. Metab. Dis. 20:453-456(1997)
Cited for: VARIANTS MPS2 PHE-73; THR-118 DEL; HIS-121; TRP-132; ARG-336; LYS-341; GLN-347; TRP-468; GLN-468; LYS-521 AND VAL-521; Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Gort L.; Coll M.J.; Chabas A.;
Hum. Mutat. Suppl. 1:S66-S68(1998)
Cited for: VARIANTS MPS2 THR-85; HIS-88; ILE-349 AND VAL-521; Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Li P.; Bellows A.B.; Thompson J.N.;
J. Med. Genet. 36:21-27(1999)
Cited for: VARIANTS MPS2 ARG-71; GLU-82; THR-85; CYS-88; ARG-95 DEL; GLN-468; TRP-468 AND VAL-521;
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.