Sequence information
Variant position: 916 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:
LPPSVHLLTLASWGPEMVLL
R LEHQFAVGEDSGRNLSAPVT
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 LPPSVHLLTLASWGPEMVLLR LEHQFAVGEDSGRNLSAPVT
Mouse LPPQVHLLTLARWGPKMLLLR LEHQFALKEDSDRNLSSPVT
Bovine LPPSVRLLTLARWGPETLLLR LEHQFAVGEDSGRNLSSPVT
Cat LPPSVHLLTLARWDQKTLLLR LEHQFAVGEDSG-NLSSPVT
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
883 – 1011
Lysosomal alpha-mannosidase E peptide
Glycosylation
930 – 930
N-linked (GlcNAc...) asparagine
Literature citations
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland H.M.; Klenow H.B.; Van Nguyen L.; Hansen G.M.; Malm D.; Nilssen O.;
Hum. Mutat. 33:511-520(2012)
Cited for: VARIANTS MANSA PHE-55; GLU-74; PRO-95; HIS-99; ASN-159; ARG-197; ASN-200; LEU-200; PRO-202; TRP-229; LEU-263; LEU-318; 339-VAL--GLN-342 DEL; PRO-352; LEU-379; CYS-390; LYS-402; VAL-420; TYR-445; CYS-451; TYR-453; PHE-453; GLU-457; SER-501; PRO-565; ARG-745; ARG-800; TRP-800; HIS-ARG-815 INS; ARG-891; PRO-892; CYS-916; HIS-916; PRO-950; ARG-956 AND SER-1000; VARIANTS LEU-248; VAL-278; SER-282; ILE-312; GLN-337; SER-413; SER-481 AND LEU-669; CHARACTERIZATION OF VARIANTS MANSA PHE-55; GLU-74; PRO-95; HIS-99; ASN-159; ARG-197; ASN-200; LEU-200; PRO-202; TRP-229; LEU-263; LEU-318; PRO-352; LEU-379; CYS-390; LYS-402; VAL-420; TYR-445; CYS-451; TYR-453; PHE-453; GLU-457; SER-501; PRO-565; ARG-745; ARG-800; TRP-800; HIS-ARG-815 INS; ARG-891; PRO-892; CYS-916; HIS-916; PRO-950; ARG-956 AND SER-1000;
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.