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Last update

21/6/2017

Gene: lipoprotein lipase; LPL

Gene Symbol: LPL
OMIM: 609708
Chromosome location: 8p21.3

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Lipoprotein lipase deficiency || c.644G>A

Phenotype:	Lipoprotein lipase deficiency
Dna Change:	c.644G>A
Protein Change:	p.Gly215Glu (GLY188GLU)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 5
Transcript:	NM_000237.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	4 families/12 unrelated families	NA	Foubert L et al., 1997Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P, . Assessment of French patients with LPL deficiency for French Canadian mutations.. J. Med. Genet.. 1997; 34(8):672-5
Morocco	Berber	NA	2 families/2 unrelated families	NA	Foubert L et al., 1997Foubert 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

Lipoprotein lipase deficiency || c.829G>A

Phenotype:	Lipoprotein lipase deficiency
Dna Change:	c.829G>A
Protein Change:	p.Asp277Asn (Asp250Asn)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_000237.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	1 families/12 unrelated families	NA	Foubert L et al., 1997Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P, . Assessment of French patients with LPL deficiency for French Canadian mutations.. J. Med. Genet.. 1997; 34(8):672-5

Lipoprotein lipase deficiency || c.858T>A

Phenotype:	Lipoprotein lipase deficiency
Dna Change:	c.858T>A
Protein Change:	p.Ser286Arg
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_000237.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	Southern	1 patient/1 family	NA	Bouabdellah M et al., 2015Bouabdellah 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; 0(0):

References

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; 0(0):

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

Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P, Assessment of French patients with LPL deficiency for French Canadian mutations.J. Med. Genet.. 1997; 34(8):672-5

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: lipoprotein lipase; LPL

References