ABCMdb

ABCG8 p.Trp361*

None has been submitted yet.

Publications

PMID: 12124998 [PubMed] Heimerl S et al: "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia."

No. Sentence Comment

77 C Y658stop R121stop R164stop Q172stop R184H L195Q P231T G574R G574E L572P L596R N ABC B S AA R263Q E146Q R405H R543S W536stop R412stop W361stop C R419P R419H R408stop R398H N437K R550S R243stop N ABCG5 ABCG8 S B A IVS1 -2A>G Del547C>191stop L501P L596R 1568_1572delTCTTT 1798_1800delTTC Del Exon 3 C336-337insA 201 * Signature 250 ABCG1 Q..EKDEG.R REMVKEILTA L GLLSCANTR TGS.... .LS GGQR KRLAIA ABCG2 ATTMTNHE.K NERINRVIEE L GLDKVADSK VGTQFIR GVS GGER KRTSIG ABCG4 S..EKQEV.K KELVTEILTA L GLMSCSHTR TAL.... .LS GGQR KRLAIA ABCG5 R..RGNPGSF QKKVEAVMAE L SLSHVADRL IGNYSLG GIS TGER RRVSIA ABCG8 PRTFSQAQ.R DKRVEDVIAE L RLRQCADTR VGNMYVR GLS GGER RRVSIG Figure 2: Alignment of the human ABC transporters G1, G2, G4, G5 and G8. The amino acid change Leu195Gln in ABCG8 found in patient 2 is located intracellularly between the Walker A and the Signature C-motif. Login to comment

PMID: 16029460 [PubMed] Rees DC et al: "Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia."

No. Sentence Comment

174 Family Sitosterol level (lmol/l) ABCG5 ABCG8 A E77X (229G>T) A-I-2 44 m/n A-II-1 1471 m/m A-II-2 17 n/n A-II-3 57 n/n A-II-4 970 m/m A-II-5 625 m/m A-II-9 508 m/m B IVS11+3insT R50C (148C>T) E146X (436G>T), M622V (1864A>G) B-I-1 77 n/n m/n B-I-2 42 m/n n/n B-II-1 2230 m/n m/n B-II-2 2350 m/n m/n B-II-3 137 n/n m/n C Q604E (1810C>G) Q271X (811C>T) IV9-3insT IV8-1G/A C54Y (161G>A) C-I-1 114 m/n n/n m/n m/n C-I-2 29 m/m m/n n/n m/m C-II-1 2100 m/n m/n m/n m/n C-II-2 2580 m/n m/n m/n m/n D W361X (1083G>A) D-I-1 22 m/n D-II-1 715 m/m E W361X (1083G>A) E-I-1 23 m/n E-II-1 1844 m/m E-II-2 21 n/n Mutations are shown in bold and large font. Login to comment
8 Three pedigrees showed five new mutations, while two pedigrees showed the common W361X mutation in ABCG8. Login to comment
131 Affected siblings in family C were compound heterozygous for Q271X and IV8-1G>A, which are both novel, while both affected individuals in families D and E were homozygous for the previously described W361X mutation in ABCG8, which is the single commonest mutation in phytosterolaemia (Berge et al, 2000; Lee et al, 2001b; Lu et al, 2001). Login to comment

PMID: 16507104 [PubMed] Pandit B et al: "A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans."

No. Sentence Comment

49 We selected 12 parents (24 chromosomes) carrying the commonest mutation, W361X, and where complete genotype information was available to compute recombination frequencies. Login to comment
122 Age of mutation was calculated considering W361X as the most common disease causing mutation. Login to comment
130 This SNP was also closely spaced to W361X mutation. Login to comment

PMID: 17632509 [PubMed] Buch S et al: "A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease."

No. Sentence Comment

49 For the sake of completeness, we also included two sitosterolemia SNPs: the SNP in ABCG8 responsible for premature stop R121X, which was monomorphic, and the SNP responsible for premature stop W361X in ABCG8, for which we observed one heterozygote each in panel B controls and affected individuals. Login to comment

PMID: 21862702 [PubMed] Calandra S et al: "Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk."

No. Sentence Comment

169 A few of the mutations are over-represented in certain ethnic groups (e.g., ABCG5, R389H in Japanese, Chinese (71, 85), ABCG8, W361X in Europeans (45, 59, 81), implying founder effects, but otherwise, each mutation is confined to one or two kindred. Login to comment

PMID: 16472606 [PubMed] Miettinen TA et al: "Liver transplantation in a patient with sitosterolemia and cirrhosis."

No. Sentence Comment

76 Genetic analyses of DNA from the proband showed that he carried the following 2 mutations: W361X (G1173A) and E423D (G1359T) in ABCG8. Login to comment
78 Although the W361X mutation has been previously reported, the E423D has not been described and is novel.18 In more than 100 normal alleles examined, E423D was not detected. Login to comment