Variant position: 382 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 AGSLTSSEDTLTVVTADHSH VFTFGGYTPRGNSIFGLAPML
Mouse AGAMTSQKDTLTVVTADHSH VFTFGGYTPRGNSIFGLAPMV
Rat AGTMTSQKDTLTVVTADHSH VFTFGGYTPRGNSIFGLAPMV
Bovine AGAMTSVEDTLTVVTADHSH VFTFGGYTPRGNSIFGLAPMV
Cat AGAMTSVEDTLTIVTADHSH VFTFGGYTPRGNSIFGLAPMV
Chicken AGRLTSPRDTLSVVTADHSH VFTFGGYTPRGNPIFGLAPMQ
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
378 – 378 Zinc 1
379 – 379 Zinc 1; via tele nitrogen
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;
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D.; Brun-Heath I.; Lia-Baldini A.S.; Bellazi L.; Taillandier A.; Serre J.L.; de Mazancourt P.; Mornet E.;
BMC Med. Genet. 10:51-51(2009)
Cited for: VARIANTS HOPS CYS-71; HIS-71; THR-111; THR-176; LYS-191; ARG-334; ASP-334; ARG-339; ILE-382; CYS-391; HIS-391; MET-414; ALA-420; LYS-452; LEU-459 AND ALA-476; CHARACTERIZATION OF VARIANTS HOPS CYS-71; HIS-71; THR-111; THR-176; LYS-191; ARG-334; ASP-334; ARG-339; ILE-382; CYS-391; HIS-391; MET-414; LYS-452; LEU-459 AND ALA-476;
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.