Variant position: 51 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:
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 LVHVDAARALWPLRRFWRST GFCPPLPHSQADQYVLSWDQQ
Mouse LVRVDAARPLRPLLPFWRST GFCPPLPHDQADQYDLSWDQQ
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.
Type Positions Description
28 – 653 Alpha-L-iduronidase
49 – 52
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
Bunge S.; Kleijer W.J.; Steglich C.; Beck M.; Zuther C.; Morris C.P.; Schwinger E.; Hopwood J.J.; Scott H.S.; Gal A.;
Hum. Mol. Genet. 3:861-866(1994)
Cited for: VARIANTS MPS1H ASP-51; THR-75; PRO-218; PRO-327; PRO-489 AND 16-SER--ALA-19 DEL;
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;
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.