Sequence information
Variant position: 533 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 653 The length of the canonical sequence.
Location on the sequence:
AAPRPLPAGGRLTLRPALRL
P SLLLVHVCARPEKPPGQVTR
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 AAPRPLPAGGRLTLRPALRLP SLLLVHVCARPEKPPGQVTR
EAPRPFPASGRLTLSVELRLP SLLLLHVCARPEKPPGPVTR
Mouse EAPRPFPARGRLTLHRKLPVP SLLLVHVCTRPLKPPGQVSR
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.
Literature citations
Insights into mucopolysaccharidosis I from the structure and action of alpha-L-iduronidase.
Bie H.; Yin J.; He X.; Kermode A.R.; Goddard-Borger E.D.; Withers S.G.; James M.N.;
Nat. Chem. Biol. 9:739-745(2013)
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 27-653 IN COMPLEX WITH IDURONATE ANALOGS; CATALYTIC ACTIVITY; ACTIVE SITE; CHARACTERIZATION OF VARIANT MPS1H ARG-533; DISULFIDE BOND; GLYCOSYLATION AT ASN-110; ASN-372 AND ASN-415;
Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Scott H.S.; Litjens T.; Nelson P.V.; Brooks D.A.; Hopwood J.J.; Morris C.P.;
Hum. Mutat. 1:333-339(1992)
Cited for: VARIANT MPS1H ARG-533;
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Matte U.; Yogalingam G.; Brooks D.; Leistner S.; Schwartz I.; Lima L.; Norato D.Y.; Brum J.M.; Beesley C.; Winchester B.; Giugliani R.; Hopwood J.J.;
Mol. Genet. Metab. 78:37-43(2003)
Cited for: VARIANTS MPS1H ILE-133; LYS-182; ASP-208; TYR-349 AND ARG-533; VARIANTS MPS1H/S PHE-260; PRO-327; ARG-380 AND PRO-628; VARIANTS MPS1S GLN-89; ILE-350; HIS-383 AND ASP-445 DEL;
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Yogalingam G.; Guo X.H.; Muller V.J.; Brooks D.A.; Clements P.R.; Kakkis E.D.; Hopwood J.J.;
Hum. Mutat. 24:199-207(2004)
Cited for: VARIANTS MPS1H/S VAL-79; GLN-238; PRO-327; CYS-363; ARG-380; ARG-533 AND ILE-602; VARIANT MPS1S ARG-423; VARIANTS GLN-82; GLN-105; THR-361 AND ILE-454; CHARACTERIZATION OF VARIANTS MPS1H/S VAL-79; GLN-238; CYS-363 AND ILE-602; CHARACTERIZATION OF VARIANT MPS1S ARG-423; CHARACTERIZATION OF VARIANT GLN-82;
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.