Variant position: 417 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 GLAPMLSDTDKKPFTAILYG NGPGYKVVGGERENVSMVDYA
Mouse GLAPMVSDTDKKPFTAILYG NGPGYKVVDGERENVSMVDYA
Rat GLAPMVSDTDKKPFTAILYG NGPGYKVVDGERENVSMVDYA
Bovine GLAPMVSDTDKKPFTAILYG NGPGYKVVGGERENVSMVDYA
Cat GLAPMVSDTDKKPFTSILYG NGPGYKVVGGERENVSMVDYA
Chicken GLAPMQSDVDRKPFTSILYG NGPGYKIVGGERENVSAVDFA
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
430 – 430 N-linked (GlcNAc...) asparagine
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Sergi C.; Mornet E.; Troeger J.; Voigtlaender T.;
Am. J. Med. Genet. 103:235-240(2001)
Cited for: VARIANT HOPS SER-417;
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Sultana S.; Al-Shawafi H.A.; Makita S.; Sohda M.; Amizuka N.; Takagi R.; Oda K.;
Mol. Genet. Metab. 109:282-288(2013)
Cited for: CHARACTERIZATION OF VARIANT HOPS SER-417; SUBUNIT; SUBCELLULAR LOCATION; FUNCTION; CATALYTIC ACTIVITY;
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