Sequence information
Variant position: 541 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1009 The length of the canonical sequence.
Location on the sequence:
PSAYDLLILTTIPGLSYRHY
N IRPTAGAQEGTQEPAATVAS
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 PSAYDLLILTTIPGLSYRHYN IRPTAGAQEGTQEPAATVAS
Mouse PSAYDLLILTTIPGLNYRHYQ VMHARGDQAGTRELVAPRAN
Pig PSAYDLHVLTTIPGLSYQHYI IKPIRKAREDSQEAAATVPS
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
24 – 1009
Epididymis-specific alpha-mannosidase
Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS PRO-243; VAL-446 AND SER-541;
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Ishikawa K.; Suyama M.; Kikuno R.; Hirosawa M.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 6:63-70(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-1009 (ISOFORM 2); VARIANTS PRO-243; VAL-446 AND SER-541;
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.