Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05186: Variant p.Asp306Val

Alkaline phosphatase, tissue-nonspecific isozyme
Gene: ALPL
Feedback?
Variant information Variant position: help 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Valine (V) at position 306 (D306V, p.Asp306Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HOPS. Any additional useful information about the variant.


Sequence information Variant position: help 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 524 The length of the canonical sequence.
Location on the sequence: help LLGLFEPGDMQYELNRNNVT D PSLSEMVVVAIQILRKNPKG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQILRKNPKG

Mouse                         LLGLFEPGDMQYELNRNNLTDPSLSEMVEVALRILTKNLKG

Rat                           LLGLFEPGDMQYELNRNNLTDPSLSEMVEVALRILTKNPKG

Bovine                        LLGLFEPGDMQYELNRNNATDPSLSEMVEMAIRILNKNPKG

Cat                           LLGLFEPGDMQYELNRNSTTDPSLSEMVEIAIKILSKNPKG

Chicken                       LLGLFEPGDMVYELDRNNETDPSLSEMVAVAIRMLQKNPRG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 18 – 501 Alkaline phosphatase, tissue-nonspecific isozyme
Binding site 290 – 290
Binding site 291 – 291
Binding site 306 – 306
Glycosylation 303 – 303 N-linked (GlcNAc...) asparagine
Mutagenesis 290 – 290 F -> A. Abolished alkaline phosphatase activity.
Mutagenesis 291 – 291 E -> A. Reduced alkaline phosphatase activity.
Mutagenesis 306 – 306 D -> A. Abolished alkaline phosphatase activity.



Literature citations
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; Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.
Taillandier A.; Zurutuza L.; Muller F.; Simon-Bouy B.; Serre J.L.; Bird L.; Brenner R.; Boute O.; Cousin J.; Gaillard D.; Heidemann P.H.; Steinmann B.; Wallot M.; Mornet E.;
Hum. Mutat. 13:171-172(1999)
Cited for: VARIANTS HOPS LEU-62; HIS-136; VAL-162; TYR-171; LYS-191; TYR-201; VAL-249; VAL-306 AND LYS-476;
Disclaimer: 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.