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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06858: Variant p.Phe297Leu

Lipoprotein lipase
Gene: LPL
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Variant information Variant position: help 297 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 Phenylalanine (F) to Leucine (L) at position 297 (F297L, p.Phe297Leu). 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 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: help 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: help In HLPP1 and hyperlipidemia; synthesized as a catalytically inactive form; total amount is almost equal to that of the normal enzyme; non-releasable by heparin due to the abnormal structure of the mutant protein. Any additional useful information about the variant.


Sequence information Variant position: help 297 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 475 The length of the canonical sequence.
Location on the sequence: help DSLLNEENPSKAYRCSSKEA F EKGLCLSCRKNRCNNLGYEI 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.
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 28 – 475 Lipoprotein lipase
Disulfide bond 291 – 310
Helix 294 – 298



Literature citations
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
Takagi A.; Ikeda Y.; Takeda E.; Yamamoto A.;
Biochim. Biophys. Acta 1502:433-446(2000)
Cited for: VARIANT HLPP1 LEU-297; CHARACTERIZATION OF VARIANT HLPP1 LEU-297; Mutations in Japanese subjects with primary hyperlipidemia -- results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996.
Maruyama T.; Yamashita S.; Matsuzawa Y.; Bujo H.; Takahashi K.; Saito Y.; Ishibashi S.; Ohashi K.; Shionoiri F.; Gotoda T.; Yamada N.; Kita T.;
J. Atheroscler. Thromb. 11:131-145(2004)
Cited for: VARIANTS HLPP1 SER-70; ARG-132; VAL-181; GLU-215; THR-221; ARG-225; ALA-227; GLU-231; CYS-270; HIS-270; THR-288; LEU-297; ARG-305; PHE-330 AND THR-361;
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.