Variant position: 171 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 LRWAKDAGKSVGIVTTTRVN HATPSAAYAHSADRDWYSDNE
Mouse LRWAKDAGKSVGIVTTTRVN HATPSAAYAHSADRDWYSDNE
Rat LRWAKDAGKSVGIVTTTRVN HATPSAAYAHSADRDWYSDNE
Bovine LRWAKDAGKSVGIVTTTRVN HATPSASYAHSADRDWYSDNE
Cat LRWAKDSGKSVGIVTTTRVN HATPSAAYAHSADRDWYSDNE
Chicken LRWAKDEGKAVGIVTTTRVT HATPSAAYAHSANRDWYSDGE
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
173 – 173 Magnesium
139 – 201
Correlations of genotype and phenotype in hypophosphatasia.
Zurutuza L.; Muller F.; Gibrat J.F.; Taillandier A.; Simon-Bouy B.; Serre J.L.; Mornet E.;
Hum. Mol. Genet. 8:1039-1046(1999)
Cited for: VARIANTS HOPS VAL-40; LEU-62; SER-75; THR-111; ARG-120; ARG-129; HIS-136; VAL-162; ASP-170; TYR-171; TRP-184; LYS-191; TRP-223; VAL-249; LYS-291; VAL-306; ASP-334; CYS-391; PRO-445; CYS-450; SER-473; LYS-476 AND ARG-491; 3D-STRUCTURE MODELING; CHARACTERIZATION OF VARIANTS;
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.
Taillandier A.; Zurutuza L.; Muller F.; Simon-Bouy B.; Serre J.L.; Bird L.; Brenner R.; Boute O.; Cousin J.; Gaillard D.; Heidemann P.H.; Steinmann B.; Wallot M.; Mornet E.;
Hum. Mutat. 13:171-172(1999)
Cited for: VARIANTS HOPS LEU-62; HIS-136; VAL-162; TYR-171; LYS-191; TYR-201; VAL-249; VAL-306 AND LYS-476;
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