Variant position: 191 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 HATPSAAYAHSADRDWYSDN EMPPEALSQGCKDIAYQLMHN
Mouse HATPSAAYAHSADRDWYSDN EMPPEALSQGCKDIAYQLMHN
Rat HATPSAAYAHSADRDWYSDN EMPPEALSQGCKDIAYQLMHN
Bovine HATPSASYAHSADRDWYSDN EMPPEALSQGCKDIAYQLMHN
Cat HATPSAAYAHSADRDWYSDN EMPPEALSQGCKDIAYQLMHN
Chicken HATPSAAYAHSANRDWYSDG EMPLDALEGGCKDIARQLVDN
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
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
Goseki-Sone M.; Orimo H.; Iimura T.; Takagi Y.; Watanabe H.; Taketa K.; Sato S.; Mayanagi H.; Shimada T.; Oida S.;
Hum. Mutat. Suppl. 1:S263-S267(1998)
Cited for: VARIANTS HOPS THR-111; THR-177; GLY-191; LEU-327 AND ILE-382;
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