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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06858: Variant p.Asp36Asn

Lipoprotein lipase
Gene: LPL
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Variant information Variant position: help 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Asparagine (N) at position 36 (D36N, p.Asp36Asn). 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 polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 Risk factor for FCHL3; has approximately 80% of the specific activity of wild-type enzyme. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 36 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 QSLTASRGGVAAADQRRDFI D IESKFALRTPEDTAEDTCHL 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
Region 32 – 53 Interaction with GPIHBP1



Literature citations
Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.
de Bruin T.W.A.; Mailly F.; van Barlingen H.H.J.J.; Fisher R.; Castro Cabezas M.; Talmud P.; Dallinga-Thie G.M.; Humphries S.E.;
Eur. J. Clin. Invest. 26:631-639(1996)
Cited for: VARIANTS ASN-36 AND SER-318; INVOLVEMENT IN FCHL3; Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His).
Rouis M.; Lohse P.; Dugi K.A.; Lohse P.; Beg O.U.; Ronan R.; Talley G.D.; Brunzell J.D.; Santamarina-Fojo S.;
J. Lipid Res. 37:651-661(1996)
Cited for: VARIANT HLPP1 HIS-289; VARIANT ASN-36; CHARACTERIZATION OF VARIANT HLPP1 HIS-289; CHARACTERIZATION OF VARIANT ASN-36; INVOLVEMENT IN FCHL3; Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.
Zhang Q.; Liu Y.; Liu B.W.; Fan P.; Cavanna J.; Galton D.J.;
Mol. Genet. Metab. 64:177-183(1998)
Cited for: VARIANT HLPP1 THR-288; VARIANTS ASN-36 AND SER-318; INVOLVEMENT IN FCHL3; Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANTS ASN-36 AND SER-318; INVOLVEMENT IN FCHL3;
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.