Variant position: 383 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 RTLTARFQVNNTRPPHVQLL RKPVLTAMGLLALLDEEQLWA
Mouse RTLTARFQVNNTHPPHVQLL RKPVLTVMGLMALLDGEQLWA
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.
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Bunge S.; Kleijer W.J.; Steglich C.; Beck M.; Schwinger E.; Gal A.;
Hum. Mutat. 6:91-94(1995)
Cited for: VARIANTS MPS1S TRP-89 AND HIS-383; VARIANT MPS1H 349-ASP-ASN-350 DEL; VARIANTS MPS1H/S THR-504 AND ARG-626;
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;
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.