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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Gene: low density lipoprotein receptor; LDLR

Gene Symbol: LDLR
OMIM: 606945
Chromosome location: 19p13.2

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

Hypercholesterolemia, familial || c.1477_1479delinsAGAGACA

Phenotype:	Hypercholesterolemia, familial
Dna Change:	c.1477_1479delinsAGAGACA
Protein Change:	p.S493RfsX44
Mutation Type:
Mutation Effect:
Location:	exon 10
Transcript:	NM_000527.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	Souassi	3 families	NA	Slimane MN et al., 2001Slimane MN, Lestavel S, Sun X, Maatouk F, Soutar AK, Ben Farhat MH, Clavey V, Benlian P, Hammami M, . Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.. Atherosclerosis. 2001; 154(3):557-65
Tunisia	NA	NA	2 families	NA	Jelassi A et al., 2009Jelassi A, Jguirim I, Najah M, Abid AM, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès JP, Slimane MN, Varret M, . Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.. Atherosclerosis. 2009; 203(2):449-53

Hypercholesterolemia, familial || c.1775G>A

Phenotype:	Hypercholesterolemia, familial
Dna Change:	c.1775G>A
Protein Change:	p.Gly592Glu (G571E)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 12
Transcript:	NM_000527.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Greece	NA	NA	28.8%	NA	Miltiadous G et al., 2001Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA, . Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.. Hum. Mutat.. 2001; 17(5):432-3

Hypercholesterolemia, familial || c.2043C>A

Phenotype:	Hypercholesterolemia, familial
Dna Change:	c.2043C>A
Protein Change:	p.Cys681X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 14
Transcript:	NM_000527.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Lebanon	NA	NA	81.5%	NA	Abifadel M et al., 2009Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C, . The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.. Hum. Mutat.. 2009; 30(7):E682-91

References

Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C, The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.Hum. Mutat.. 2009; 30(7):E682-91

Jelassi A, Jguirim I, Najah M, Abid AM, Boughamoura L, Maatouk F, Rouis M, Boileau C, Rabès JP, Slimane MN, Varret M, Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.Atherosclerosis. 2009; 203(2):449-53

Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA, Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.Hum. Mutat.. 2001; 17(5):432-3

Slimane MN, Lestavel S, Sun X, Maatouk F, Soutar AK, Ben Farhat MH, Clavey V, Benlian P, Hammami M, Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.Atherosclerosis. 2001; 154(3):557-65

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: low density lipoprotein receptor; LDLR

References