Variant position: 801 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1011 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 RIYITDGNMQLTVLTDRSQG GSSLRDGSLELMVHRRLLKDD
Mouse RIYITDGQMQLTVLTDRSQG GSSLQDGSLELMVHRRLLVDD
Bovine RIYITDGNMQLTVLTDRSQG GSSLRDGSLELMVHRRLLKDD
Cat RIYIRDGNMQLTVLTDRSQG GSSLRDGSMELMVHRRLLKDD
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
50 – 1011 Lysosomal alpha-mannosidase
602 – 882 Lysosomal alpha-mannosidase D peptide
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Sbaragli M.; Bibi L.; Pittis M.G.; Balducci C.; Heikinheimo P.; Ricci R.; Antuzzi D.; Parini R.; Spaccini L.; Bembi B.; Beccari T.;
Hum. Mutat. 25:320-320(2005)
Cited for: VARIANTS MANSA LEU-200 AND ASP-801; CHARACTERIZATION OF VARIANTS MANSA LEU-200 AND ASP-801;
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.