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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05186: Variant p.Leu275Pro

Alkaline phosphatase, tissue-nonspecific isozyme
Gene: ALPL
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Variant information Variant position: help 275 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 Leucine (L) to Proline (P) at position 275 (L275P, p.Leu275Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 HPPC; severe allele. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 275 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 TWKSFKPRYKHSHFIWNRTE L LTLDPHNVDYLLGLFEPGDM 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                         TWKSFKPRYKHSHFIWNRTELLTLDPHNVDYLLGLFEPGDM

Mouse                         IWKSFKPRHKHSHYVWNRTELLALDPSRVDYLLGLFEPGDM

Rat                           IWKSFKPRHKHSHYVWNRTELLALDPSRVDYLLGLFEPGDM

Bovine                        IWKSFKPKHKHSHYVWNRTDLLALDPHSVDYLLGLFEPGDM

Cat                           IWKSFKPRHKHSHYVWNRTELLTLDPYGVDYLLGLFEPGDM

Chicken                       AWHDTKPAGKVAKYVWHRRELLALNVSRVDFLLGLFEPGDM
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
Glycosylation 271 – 271 N-linked (GlcNAc...) asparagine
Mutagenesis 270 – 270 W -> A. Reduced alkaline phosphatase activity.
Mutagenesis 272 – 272 R -> A. Reduced alkaline phosphatase activity.
Mutagenesis 290 – 290 F -> A. Abolished alkaline phosphatase activity.
Mutagenesis 291 – 291 E -> A. Reduced alkaline phosphatase activity.



Literature citations
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
Orimo H.; Girschick H.J.; Goseki-Sone M.; Ito M.; Oda K.; Shimada T.;
J. Bone Miner. Res. 16:2313-2319(2001)
Cited for: INVOLVEMENT IN HPPC; VARIANTS HPPC MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391; CHARACTERIZATION OF VARIANTS HPPC MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391; VARIANT ALA-522; CHARACTERIZATION OF VARIANT ALA-522;
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.