Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 524 The length of the canonical sequence.
Location on the sequence:
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 ELLTLDPHNVDYLLGLFEPG DMQYELNRNNVTDPSLSEMVV
Mouse ELLALDPSRVDYLLGLFEPG DMQYELNRNNLTDPSLSEMVE
Rat ELLALDPSRVDYLLGLFEPG DMQYELNRNNLTDPSLSEMVE
Bovine DLLALDPHSVDYLLGLFEPG DMQYELNRNNATDPSLSEMVE
Cat ELLTLDPYGVDYLLGLFEPG DMQYELNRNSTTDPSLSEMVE
Chicken ELLALNVSRVDFLLGLFEPG DMVYELDRNNETDPSLSEMVA
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
18 – 501 Alkaline phosphatase, tissue-nonspecific isozyme
303 – 303 N-linked (GlcNAc...) asparagine
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Henthorn P.S.; Raducha M.; Fedde K.N.; Lafferty M.A.; Whyte M.P.;
Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992)
Cited for: VARIANTS HOPS VAL-33; CYS-71; PRO-71; LYS-191; PRO-207; ALA-294; VAL-378 AND HIS-436; VARIANT HIS-263;
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
Mumm S.; Jones J.; Finnegan P.; Henthorn P.S.; Podgornik M.N.; Whyte M.P.;
Mol. Genet. Metab. 75:143-153(2002)
Cited for: VARIANTS HOPS SER-51; HIS-71; THR-111; MET-128; HIS-134; HIS-136; THR-176; LYS-191; GLN-223; TRP-223; SER-246; ALA-294; PRO-299; PHE-327 DEL; ARG-339; THR-348; VAL-378; MET-414; ASP-426 AND LYS-476; VARIANTS HIS-263 AND ALA-522;
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
Brun-Heath I.; Taillandier A.; Serre J.-L.; Mornet E.;
Mol. Genet. Metab. 84:273-277(2005)
Cited for: VARIANTS HOPS VAL-33; HIS-136; GLN-223; TRP-223; HIS-272; THR-292; ALA-294; THR-295; ASP-297; ASP-334 AND ALA-411; CHARACTERIZATION OF VARIANTS HOPS VAL-33; HIS-272; THR-292; THR-295; ASP-297 AND ALA-411;
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