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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00462: Variant p.Gly392Glu

Beta-mannosidase
Gene: MANBA
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Variant information Variant position: help 392 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 Glycine (G) to Glutamate (E) at position 392 (G392E, p.Gly392Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 MANSB; nearly complete loss of enzyme activity. Any additional useful information about the variant.


Sequence information Variant position: help 392 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 879 The length of the canonical sequence.
Location on the sequence: help LRLLLQSVVDANMNTLRVWG G GIYEQDEFYELCDELGIMVW 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                         LRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVW

Mouse                         LQLLFQSVVDANMNTLRVWGGGIYEQDEFYALCDELGIMVW

Rat                           LQLLLQSAVDANMNTLRVWGGGIYEQDEFYALCDELGIMVW

Bovine                        LRLLLQSVVDANMNALRVWGGGVYEQDEFYELCDELGIMIW

Goat                          LRLLLQSVVDANMNALRVWGGGIYEQDEFYELCDELGIMIW

Caenorhabditis elegans        TEFLLDSVAEVGMNAIRVWGGGFYESNHFYYYASKKGILVW
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 18 – 879 Beta-mannosidase



Literature citations
Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
Gort L.; Duque J.; Fabeiro J.M.; Zulaica A.; Coll M.J.; Chabas A.;
Mol. Genet. Metab. 89:398-400(2006)
Cited for: VARIANTS MANSB TRP-182; GLU-392 AND 466-TRP--TYR-879 DEL; CATALYTIC ACTIVITY; Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
Riise Stensland H.M.; Persichetti E.; Sorriso C.; Hansen G.M.; Bibi L.; Paciotti S.; Balducci C.; Beccari T.;
Mol. Genet. Metab. 94:476-480(2008)
Cited for: VARIANT MANSB PRO-505; CHARACTERIZATION OF VARIANTS MANSB TRP-182; GLU-392 AND PRO-505; CHARACTERIZATION OF VARIANT ILE-253; CATALYTIC ACTIVITY; MUTAGENESIS OF ARG-638; ARG-641 AND LEU-749; The structure of mammalian beta-mannosidase provides insight into beta-mannosidosis and nystagmus.
Gytz H.; Liang J.; Liang Y.; Gorelik A.; Illes K.; Nagar B.;
FEBS J. 286:1319-1331(2019)
Cited for: CHARACTERIZATION OF VARIANTS MANSB TRP-182; GLU-392; 466-TRP--TYR-879 DEL AND PRO-505; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; BIOPHYSICOCHEMICAL PROPERTIES;
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.