Variant position: 108 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 EMDKFPFVALSKTYNTNAQV PDSAGTATAYLCGVKANEGTV
Mouse EMDKFPFVALSKTYNTNAQV PDSAGTATAYLCGVKANEGTV
Rat EMDKFPFVALSKTYNTNAQV PDSAGTATAYLCGVKANEGTV
Bovine EMDKFPYVALSKTYNTNAQV PDSAGTATAYLCGVKANEGTV
Cat EMDKFPYVALSKTYNTNAQV PDSAGTATAYLCGVKANEGTV
Chicken EMDKFPYVALAKTYNTNAQV PDSAGTATAYLCGVKANEGTV
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
110 – 110 Phosphoserine intermediate
110 – 110 Zinc 1
110 – 110 Phosphoserine
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
Herasse M.; Spentchian M.; Taillandier A.; Keppler-Noreuil K.; Fliorito A.N.M.; Bergoffen J.; Wallerstein R.; Muti C.; Simon-Bouy B.; Mornet E.;
J. Med. Genet. 40:605-609(2003)
Cited for: VARIANTS HOPS LEU-108; THR-116 AND MET-414; CHARACTERIZATION OF VARIANT HOPS LEU-108;
Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
Numa-Kinjoh N.; Komaru K.; Ishida Y.; Sohda M.; Oda K.;
Mol. Genet. Metab. 115:180-185(2015)
Cited for: CHARACTERIZATION OF VARIANT HOPS LEU-108; SUBCELLULAR LOCATION; SUBUNIT; FUNCTION; CATALYTIC ACTIVITY;
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.