Sequence information
Variant position: 505 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 879 The length of the canonical sequence.
Location on the sequence:
YVKNIRELVLAGDKSRPFIT
S SPTNGAETVAEAWVSQNPNS
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 YVKNIRELVLAGDKSRPFITS SPTNGAETVAEAWVSQNPNS
Mouse YVKNIRKIVLSEDKSRPFIAS SPTNGMKTMEEGWISYDPYS
Rat YVKTIREIVLSEDRSRPFIAS SPTNGVKTMTEGWISKDPYS
Bovine YVKNIRTIVLEGDQTRPFITS SPTNGAKTIAEGWLSPNPYD
Goat YVKNIRTIVLEGDQTRPFIIS SPTNGAKTTAEGWLSPNPYD
Caenorhabditis elegans YQR-LAKIAKKVAPTIPFIMS SPSNGVETEEEGGVSKNPYD
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
18 – 879
Beta-mannosidase
Literature citations
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.