Variant position: 224 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 IAYQLMHNIRDIDVIMGGGR KYMYPKNKTDVEYESDEKARG
Mouse IAYQLMHNIKDIDVIMGGGR KYMYPKNRTDVEYELDEKARG
Rat IAYQLMHNIKDIDVIMGGGR KYMYPKNRTDVEYELDEKARG
Bovine IAYQLMHNIKDIEVIMGGGR KYMFPKNRTDVEYELDEKARG
Cat IAYQLMHNVRDIEVIMGGGR KYMFPKNRTDVEYEMDEKARG
Chicken IARQLVDNIPDIEVILGGGR KYMFPKNTSDVEYPQEERHRG
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
230 – 230 N-linked (GlcNAc...) asparagine
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
Mochizuki H.; Saito M.; Michigami T.; Ohashi H.; Koda N.; Yamaguchi S.; Ozono K.;
Eur. J. Pediatr. 159:375-379(2000)
Cited for: VARIANTS HOPSI GLU-224 AND CYS-426;
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