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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22304: Variant p.Lys347Thr

Iduronate 2-sulfatase
Gene: IDS
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Variant information Variant position: help 347 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 Lysine (K) to Threonine (T) at position 347 (K347T, p.Lys347Thr). 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 large size and basic (K) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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; deleterious mutation confirmed. Any additional useful information about the variant.


Sequence information Variant position: help 347 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 TIIAFTSDHGWALGEHGEWA K YSNFDVATHVPLIFYVPGRT 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                         TIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRT

Mouse                         TIIAFTSDHGWALGEHGEWAKYSNFDVATRVPLMLYVPGRT

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 34 – 455 Iduronate 2-sulfatase 42 kDa chain
Binding site 334 – 334
Binding site 335 – 335
Alternative sequence 313 – 550 Missing. In isoform 3.
Alternative sequence 344 – 550 Missing. In isoform 2.
Beta strand 345 – 349



Literature citations
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
Villani G.R.D.; Balzano N.; Grosso M.; Salvadore F.; Izzo P.; di Natale P.;
Hum. Mutat. 10:71-75(1997)
Cited for: VARIANTS MPS2 ASP-63; THR-347; GLN-468 AND LEU-468; The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Bonuccelli G.; Di Natale P.; Corsolini F.; Villani G.; Regis S.; Filocamo M.;
Biochim. Biophys. Acta 1537:233-238(2001)
Cited for: VARIANTS MPS2 SER-117 DEL; ILE-265 AND THR-347; CHARACTERIZATION OF VARIANTS MPS2 SER-117 DEL; ILE-265 AND THR-347; CATALYTIC ACTIVITY; FUNCTION;
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.