Variant position: 72 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 YETCPTVQPNMLNVHLLPHT HDDVGWLKTVDQYFYGIKNDI
Mouse YKTCPPTKPGMLNVHLLPHT HDDVGWLKTVDQYYYGILSDV
Bovine YKTCPKVKPDMLNVHLVPHT HDDVGWLKTVDQYFYGIYNNI
Cat YETCPMVHPDMLNVHLVAHT HDDVGWLKTVDQYFYGIHNDV
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
50 – 345 Lysosomal alpha-mannosidase A peptide
72 – 72 Zinc
74 – 74 Zinc
55 – 358
Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
Nilssen O.; Berg T.; Riise H.M.F.; Ramachandran U.; Evjen G.; Hansen G.M.; Malm D.; Tranebjaerg L.; Tollersrud O.-K.;
Hum. Mol. Genet. 6:717-726(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANT MANSA LEU-72;
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
Gotoda Y.; Wakamatsu N.; Kawai H.; Nishida Y.; Matsumoto T.;
Am. J. Hum. Genet. 63:1015-1024(1998)
Cited for: VARIANTS MANSA LEU-72; ARG-356 AND TRP-750;
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