Variant position: 436 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 GNGPGYKVVGGERENVSMVD YAHNNYQAQSAVPLRHETHGG
Mouse GNGPGYKVVDGERENVSMVD YAHNNYQAQSAVPLRHETHGG
Rat GNGPGYKVVDGERENVSMVD YAHNNYQAQSAVPLRHETHGG
Bovine GNGPGYKVVGGERENVSMVD YAHNNYQAQSAVPLRHETHGG
Cat GNGPGYKVVGGERENVSMVD YAHNNYQAQSAVPLRHETHGG
Chicken GNGPGYKIVGGERENVSAVD FAHANYQAQAAVPLRQETHGG
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
454 – 454 Zinc 2; via tele nitrogen
430 – 430 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;
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.