Sequence information
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:
YETCPTVQPNMLNVHLLPHT
H DDVGWLKTVDQYFYGIKNDI
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 YETCPTVQPNMLNVHLLPHTH DDVGWLKTVDQYFYGIKNDI
Mouse YKTCPPTKPGMLNVHLLPHTH DDVGWLKTVDQYYYGILSDV
Bovine YKTCPKVKPDMLNVHLVPHTH DDVGWLKTVDQYFYGIYNNI
Cat YETCPMVHPDMLNVHLVAHTH DDVGWLKTVDQYFYGIHNDV
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
50 – 1011
Lysosomal alpha-mannosidase
Chain
50 – 345
Lysosomal alpha-mannosidase A peptide
Metal binding
72 – 72
Zinc
Metal binding
74 – 74
Zinc
Disulfide bond
55 – 358
Literature citations
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;
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.