Variant position: 291 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 NRTELLTLDPHNVDYLLGLF EPGDMQYELNRNNVTDPSLSE
Mouse NRTELLALDPSRVDYLLGLF EPGDMQYELNRNNLTDPSLSE
Rat NRTELLALDPSRVDYLLGLF EPGDMQYELNRNNLTDPSLSE
Bovine NRTDLLALDPHSVDYLLGLF EPGDMQYELNRNNATDPSLSE
Cat NRTELLTLDPYGVDYLLGLF EPGDMQYELNRNSTTDPSLSE
Chicken HRRELLALNVSRVDFLLGLF EPGDMVYELDRNNETDPSLSE
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
271 – 271 N-linked (GlcNAc...) asparagine
303 – 303 N-linked (GlcNAc...) asparagine
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Mornet E.; Taillandier A.; Peyramaure S.; Kaper F.; Muller F.; Brenner R.; Bussiere P.; Freisinger P.; Godard J.; Le Merrer M.; Oury J.F.; Plauchu H.; Puddu R.; Rival J.M.; Superti-Furga A.; Touraine R.L.; Serre J.L.; Simon-Bouy B.;
Eur. J. Hum. Genet. 6:308-314(1998)
Cited for: VARIANTS HOPS PHE-17; VAL-40; SER-75; ARG-120; ARG-129; ASP-170; TRP-184; LYS-191; TRP-223; LYS-291; ASP-334; PRO-445; CYS-450; SER-473 AND ARG-491; VARIANT HIS-263;
Correlations of genotype and phenotype in hypophosphatasia.
Zurutuza L.; Muller F.; Gibrat J.F.; Taillandier A.; Simon-Bouy B.; Serre J.L.; Mornet E.;
Hum. Mol. Genet. 8:1039-1046(1999)
Cited for: VARIANTS HOPS VAL-40; LEU-62; SER-75; THR-111; ARG-120; ARG-129; HIS-136; VAL-162; ASP-170; TYR-171; TRP-184; LYS-191; TRP-223; VAL-249; LYS-291; VAL-306; ASP-334; CYS-391; PRO-445; CYS-450; SER-473; LYS-476 AND ARG-491; 3D-STRUCTURE MODELING; CHARACTERIZATION OF VARIANTS;
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
Litmanovitz I.; Reish O.; Dolfin T.; Arnon S.; Regev R.; Grinshpan G.; Yamazaki M.; Ozono K.;
J. Inherit. Metab. Dis. 25:35-40(2002)
Cited for: VARIANTS HOPS LYS-291 AND ARG-326;
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.