ABCG8 p.Arg121*
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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.
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ABCG8 p.Arg121* 12124998:77:11
status: VERIFIED
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.
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ABCG8 p.Arg121* 17632509:49:120
status: NEW