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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00754: Variant p.His72Leu

Lysosomal alpha-mannosidase
Gene: MAN2B1
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Variant information Variant position: help 72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Histidine (H) to Leucine (L) at position 72 (H72L, p.His72Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (H) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MANSA; type II. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1011 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDI

Mouse                         YKTCPPTKPGMLNVHLLPHTHDDVGWLKTVDQYYYGILSDV

Bovine                        YKTCPKVKPDMLNVHLVPHTHDDVGWLKTVDQYFYGIYNNI

Cat                           YETCPMVHPDMLNVHLVAHTHDDVGWLKTVDQYFYGIHNDV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 50 – 1011 Lysosomal alpha-mannosidase
Chain 50 – 345 Lysosomal alpha-mannosidase A peptide
Binding site 72 – 72
Binding site 74 – 74
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.