LPL
Gene name: lipoprotein lipaseOMIM ID: 609708
Chromosome location: 8p21.3
Mutations
| Disease/Phenotype | Lipoprotein lipase deficiency |
|---|---|
| Reference transcript | NM_000237.2 |
| DNA Change | c.858T>A |
| A.A. Change | p.Ser286Arg |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M.A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry. Hum Mutat. 1997;10(3):179-85. |
| Disease/Phenotype | Lipoprotein lipase deficiency |
|---|---|
| Reference transcript | NM_000237.2 |
| DNA Change | c.858T>A |
| A.A. Change | p.Ser286Arg |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Bouabdellah M, Iraqi H, Benlian P, Berqia I, Benchekroun L, Chraïbi A, Chabraoui L.Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family. Ann Biol Clin (Paris). 2015 Jun 24. [Epub ahead of print] |