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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06858: Variant p.Leu279Arg

Lipoprotein lipase
Gene: LPL
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Variant information Variant position: help 279 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 Arginine (R) at position 279 (L279R, p.Leu279Arg). 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 hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; decreases the specific activity of the enzyme; the total LPL mass is reduced compared to that of the wild-type construct. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 279 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 DVDQLVKCSHERSIHLFIDS L LNEENPSKAYRCSSKEAFEK 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
Active site 268 – 268 Charge relay system
Mutagenesis 268 – 268 H -> G. Loss of enzyme activity with triolein and tributyrin.
Mutagenesis 268 – 268 H -> Q. Loss of enzyme activity with triolein and tributyrin.
Helix 262 – 280



Literature citations
High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform.
Ma Y.; Ooi T.C.; Liu M.-S.; Zhang H.; McPherson R.; Edwards A.L.; Forsythe I.J.; Frohlich J.; Brunzell J.D.; Hayden M.R.;
J. Lipid Res. 35:1066-1075(1994)
Cited for: VARIANTS HLPP1 CYS-199; ARG-279 AND THR-288; CHARACTERIZATION OF VARIANTS HLPP1 ARG-279 AND THR-288; Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
Chan L.Y.S.; Lam C.-W.; Mak Y.-T.; Tomlinson B.; Tsang M.-W.; Baum L.; Masarei J.R.L.; Pang C.-P.;
Hum. Mutat. 20:232-233(2002)
Cited for: VARIANTS HLPP1 THR-98; ILE-208; VAL-279; ARG-279; TYR-310; ARG-325 AND PHE-365; CHARACTERIZATION OF VARIANTS HLPP1 THR-98; ILE-208; VAL-279; ARG-279; TYR-310; ARG-325 AND PHE-365;
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.