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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35475: Variant p.His33Gln

Alpha-L-iduronidase
Gene: IDUA
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Variant information Variant position: help 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Histidine (H) to Glutamine (Q) at position 33 (H33Q, p.His33Gln). 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 polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

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


Sequence information Variant position: help 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 653 The length of the canonical sequence.
Location on the sequence: help LLASLLAAPPVAPAEAPHLV H VDAARALWPLRRFWRSTGFC 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                         LLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFC

                              LLAALLAAPR-ALAEAPHLVLVDAARALRPLRPFWRSTGFC

Mouse                         FFAAFLAAPL-ALAESPYLVRVDAARPLRPLLPFWRSTGFC

Drosophila                    LLLVLTTLAR------IHAHYTSGDVVYHTMPHFWTGVGFC

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 28 – 653 Alpha-L-iduronidase
Beta strand 30 – 42



Literature citations
Human alpha-L-iduronidase: cDNA isolation and expression.
Scott H.S.; Anson D.S.; Orsborn A.M.; Nelson P.V.; Clements P.R.; Morris C.P.; Hopwood J.J.;
Proc. Natl. Acad. Sci. U.S.A. 88:9695-9699(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLN-33; Structure and sequence of the human alpha-L-iduronidase gene.
Scott H.S.; Guo X.H.; Hopwood J.J.; Morris C.P.;
Genomics 13:1311-1313(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-33; PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
Scott H.S.; Litjens T.; Hopwood J.J.; Morris C.P.;
Hum. Genet. 90:327-327(1992)
Cited for: VARIANT GLN-33; Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A.; Beesley C.; Berna L.; Stolnaja L.; Myskova H.; Bouckova M.; Vlaskova H.; Poupetova H.; Zeman J.; Magner M.; Hlavata A.; Winchester B.; Hrebicek M.; Dvorakova L.;
Am. J. Med. Genet. A 149A:965-974(2009)
Cited for: VARIANTS MPS1H TYR-315; PRO-327 AND PHE-620; CHARACTERIZATION OF VARIANTS MPS1H TYR-315 AND PHE-620; VARIANT MPS1S ARG-380; VARIANTS GLN-33; GLN-105; THR-361 AND ILE-454; IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles.
Bertola F.; Filocamo M.; Casati G.; Mort M.; Rosano C.; Tylki-Szymanska A.; Tuysuz B.; Gabrielli O.; Grossi S.; Scarpa M.; Parenti G.; Antuzzi D.; Dalmau J.; Di Rocco M.; Vici C.D.; Okur I.; Rosell J.; Rovelli A.; Furlan F.; Rigoldi M.; Biondi A.; Cooper D.N.; Parini R.;
Hum. Mutat. 32:E2189-E2210(2011)
Cited for: VARIANTS MPS1H/S ARG-84; LYS-178; LEU-188; ARG-265; LYS-276; PRO-396; ARG-423; PRO-436; ARG-496; ARG-533 AND PHE-535; VARIANTS MPS1H ASP-51; PRO-103; PRO-327 AND ARG-385; VARIANTS MPS1S CYS-76; TRP-89; GLU-219; LYS-276; LEU-306; LYS-348; PRO-490 AND PRO-492; VARIANTS GLN-33; GLN-105; THR-361; ASN-449; ILE-454 AND THR-591;
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.