UniProtKB/Swiss-Prot P06858: Variant p.Gly215Glu

Lipoprotein lipase
Gene: LPL
Chromosomal location: 8p22
Variant information

Variant position:  215
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Glutamate (E) at position 215 (G215E, p.Gly215Glu).
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 glycine (G) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]: Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In LPL deficiency; loss of activity.
Any additional useful information about the variant.



Sequence information

Variant position:  215
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  475
The length of the canonical sequence.

Location on the sequence:   PSRLSPDDADFVDVLHTFTR  G SPGRSIGIQKPVGHVDIYPN
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:  
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


Literature citations

Missense mutation (Gly-->Glu188) of human lipoprotein lipase imparting functional deficiency.
Emi M.; Wilson D.E.; Iverius P.H.; Wiu L.; Hata A.; Hegele R.; Williams R.R.; Lalouel J.-M.;
J. Biol. Chem. 265:5910-5916(1990)
Cited for: VARIANT LPL DEFICIENCY GLU-215;

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
Monsalve M.V.; Henderson H.; Roederer G.; Julien P.; Deeb S.; Kastelein J.J.P.; Peritz L.; Devlin R.; Bruin T.; Murthy M.R.V.; Gagne C.; Davignon J.; Lupien P.J.; Brunzell J.D.; Hayden M.R.;
J. Clin. Invest. 86:728-734(1990)
Cited for: VARIANT LPL DEFICIENCY GLU-215;

A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
Ishimura-Oka K.; Semenkovich C.F.; Faustinella F.; Goldberg I.J.; Shachter N.; Smith L.C.; Coleman T.; Hide W.A.; Brown W.V.; Oka K.;
J. Lipid Res. 33:745-754(1992)
Cited for: VARIANTS LPL DEFICIENCY GLU-215; HIS-270 AND ASN-277;

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
Reina M.; Brunzell J.D.; Deeb S.S.;
J. Lipid Res. 33:1823-1832(1992)
Cited for: VARIANTS LPL DEFICIENCY ARG-113; ARG-163; GLU-215; THR-221 AND SER-232;

A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression.
Bruin T.; Tuzgoel S.; Mulder W.J.; van den Ende A.E.; Jansen H.; Hayden M.R.; Kastelein J.J.P.;
J. Lipid Res. 35:438-445(1994)
Cited for: VARIANTS LPL DEFICIENCY LEU-96 AND GLU-215; CHARACTERIZATION OF VARIANT LPL DEFICIENCY LEU-96;

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
Wiebusch H.; Funke H.; Santer R.; Richter W.; Assmann G.;
Hum. Mutat. 8:392-392(1996)
Cited for: VARIANTS LPL DEFICIENCY GLY-190 AND GLU-215;

Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
Benlian P.; De Gennes J.L.; Foubert L.; Zhang H.; Gagne S.E.; Hayden M.;
N. Engl. J. Med. 335:848-854(1996)
Cited for: VARIANTS LPL DEFICIENCY ALA-128; GLU-215; ARG-215; CYS-270; ASN-277 AND PRO-313;

Assessment of French patients with LPL deficiency for French Canadian mutations.
Foubert L.; De Gennes J.L.; Lagarde J.P.; Ehrenborg E.; Raisonnier A.; Girardet J.P.; Hayden M.R.; Benlian P.;
J. Med. Genet. 34:672-675(1997)
Cited for: VARIANTS LPL DEFICIENCY ALA-128; HIS-183; GLU-215; ARG-215; LEU-234; CYS-270 AND ASN-277;

Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LPL) as a cause of chylomicronemia.
Evans D.; Wendt D.; Ahle S.; Guerra A.; Beisiegel U.;
Hum. Mutat. 12:217-217(1998)
Cited for: VARIANTS LPL DEFICIENCY GLU-215 AND GLY-286;

Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
Kavazarakis E.; Stabouli S.; Gourgiotis D.; Roumeliotou K.; Traeger-Synodinos J.; Bossios A.; Fretzayas A.; Kanavakis E.;
Eur. J. Pediatr. 163:462-466(2004)
Cited for: VARIANTS LPL DEFICIENCY GLU-215 AND ARG-328;

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 LPL DEFICIENCY 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;

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Santer R.; Gokcay G.; Demirkol M.; Gal A.; Lukacs Z.;
J. Inherit. Metab. Dis. 28:137-140(2005)
Cited for: VARIANTS LPL DEFICIENCY GLU-186; GLU-215 AND THR-221;

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.