Variant position: 380 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 FAQRTLTARFQVNNTRPPHV QLLRKPVLTAMGLLALLDEEQ
Mouse FSQRTLTARFQVNNTHPPHV QLLRKPVLTVMGLMALLDGEQ
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.
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;
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;
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.