ABCMdb

PMID: 11668628

Hubacek JA, Berge KE, Cohen JC, Hobbs HH
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hum Mutat. 2001 Oct;18(4):359-60., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCG5 p.Asn437Lys In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). Login to comment 6 ABCG5 p.Gln604Glu ABCG5 p.Ile523Val ABCG5 p.Cys600Tyr ABCG5 p.Met622Val ABCG8 p.Asp19His ABCG8 p.Tyr641Phe ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8. Login to comment 12 ABCG8 p.Leu596Arg PATIENTS AND METHODS Patients The first patient was a Caucasian girl who was previously found to be heterozygous for a missense mutation in ABCG8 (c.1787T>G; L596R); no mutation was found in the other ABCG8 allele (Berge et al. 2000; Stell and Sprecher 1990). Login to comment 31 ABCG5 p.Asn437Lys A cytosine to guanine substitution was found in exon 9 of ABCG5, which resulted in the substitution of lysine for asparagine at amino acid 437. Login to comment 36 ABCG5 p.Gln604Glu ABCG5 p.Ile523Val ABCG5 p.Cys600Tyr ABCG5 p.Met622Val ABCG8 p.Asp19His ABCG8 p.Tyr641Phe ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Gene Exon NT change AA change Allele frequency RE ABCG5 ABCG8 ex. 11 ex. 13 ex. 13 ex. 13 ex. 1 ex. 2 ex. 8 ex. 13 ex. 13 c.1567 A>G c.1799 G>A c.1810 C>G c.1864 A>G c.52 G>C c.161 A>G c.1199 C>A c.1895 C>T c.1922 A>T I523V C600Y Q604E M622V D19H Y54C T400K A632V Y641F <1% <1% C=0.80/G=0.20 <1% G=0.94/C=0.06 A=0.61/G=0.39 C=0.80/A=0.20 C=0.83/T=0.17 A=0.99/T=0.01 XmnI TsrpI SexAI MseI NcoI MboII *The polymorphisms were found either in sitosterolemic probands or in genomic DNA from 24 individuals with high plasma cholesterol concentrations. Allele frequencies of the nonsynonymous sequence variants identified were determined in 50 unrelated Caucasians. Login to comment 58 ABCG5 p.Asn437Lys The second mutation results in the substitution of a basic amino acid for an uncharged amino acid (N437K) in a putative transmembrane domain. Login to comment