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UniProtKB/Swiss-Prot P05186: Variant p.Phe327Leu

Alkaline phosphatase, tissue-nonspecific isozyme
Gene: ALPL
Variant information

Variant position:  327
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Leucine (L) at position 327 (F327L, p.Phe327Leu).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In HOPS and HOPSI.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  327
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:   PSLSEMVVVAIQILRKNPKG  F FLLVEGGRIDHGHHEGKAKQ
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                         PSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQ

Mouse                         PSLSEMVEVALRILTKNLKGFFLLVEGGRIDHGHHEGKAKQ

Rat                           PSLSEMVEVALRILTKNPKGFFLLVEGGRIDHGHHEGKAKQ

Bovine                        PSLSEMVEMAIRILNKNPKGFFLLVEGGRIDHGHHEGKAKQ

Cat                           PSLSEMVEIAIKILSKNPKGFFLLVEGGRIDHGHHEGKAKQ

Chicken                       PSLSEMVAVAIRMLQKNPRGFFLLVEGGRIDHGHHEGKAKQ

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.

TypePositionsDescription
Chain 18 – 501 Alkaline phosphatase, tissue-nonspecific isozyme
Metal binding 332 – 332 Magnesium
Metal binding 337 – 337 Zinc 2
Metal binding 341 – 341 Zinc 2; via tele nitrogen


Literature citations

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
Ozono K.; Yamagata M.; Michigami T.; Nakajima S.; Sakai N.; Cai G.; Satomura K.; Yasui N.; Okada S.; Nakayama M.;
J. Clin. Endocrinol. Metab. 81:4458-4461(1996)
Cited for: INVOLVEMENT IN HOPSI; VARIANTS HOPSI LEU-327 AND ARG-456;

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;

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.