Sequence information
Variant position: 350 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:
QNLLLANTTSAFPYALLSND
N AFLSYHPHPFAQRTLTARFQ
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 QNLLLANTTSAFPYALLSNDN AFLSYHPHPFAQRTLTARFQ
QNPPRANGSAALRPALLSNDN AFLSFHPHPFTQRTLTARFQ
Mouse QNLLFANSSSSMRYVLLSNDN AFLSYHPYPFSQRTLTARFQ
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
Chain
28 – 653
Alpha-L-iduronidase
Binding site
349 – 349
Substrate
Binding site
363 – 363
Substrate
Glycosylation
336 – 336
N-linked (GlcNAc...) asparagine
Literature citations
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;
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.