Sequence information
Variant position: 501 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:
ARLRGFKDHFTFCQQLNISI
C PLSQTAARFQVIVYNPLGRK
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 ARLRGFKDHFTFCQQLNISIC PLSQTAARFQVIVYNPLGRK
Mouse ARLSHYKQNFSFCRELNISIC PVSQTSERFQVTLYNPLGRK
Bovine AHLSGLKEDFAFCRKLNISIC PLTQTAERFQVIVYNPLGRK
Cat ARLSGSKEDFTYCRNLNVSVC PLSQTAKNFQVTIYNPLGRK
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
430 – 601
Lysosomal alpha-mannosidase C peptide
Glycosylation
497 – 497
N-linked (GlcNAc...) asparagine
Disulfide bond
493 – 501
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.