ABCMdb

ABCG8 p.Leu195Gln

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
8 In a second patient we found a novel heterozygous mutation in exon 5 of ABCG8 (c.584T>A; Leu195Gln). Login to comment
37 (mg/dl) Gene Mutation Allele 1 Mutation Allele 2 Ethnicity 1 305 246 38 101 31.1 ABCG5 Arg408X - Caucasian / German 2 210 129 67 72 20.3 ABCG8 Leu195Gln - Caucasian 3 218 166 35 84 22.1 ABCG8 Trp361X Arg412X Caucasian 4 247 155 56 189 20.5 ABCG8 Trp361X Trp361X Caucasian 5 214 145 42 90 17.5 ABCG8 Gly574Arg Gly574Arg Caucasian / Swiss Patient 1 was a man who suffered from a myocardial infarction at the age of 31 years. Login to comment
68 A novel missense mutation producing a nonconservative amino acid change (Leu195Gln) was identified in patient 2. Login to comment
72 Therefore, it is very likely that the Leu195Gln substitution is the cause of Sitosterolemia in our patient. Login to comment