ABCMdb

PMID: 11474653

Germain DP
Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.
J Med Genet. 2001 Jul;38(7):457-61., [PubMed]

Sentences

No. Mutations Sentence Comment

24 ABCC6 p.Gln378* This nucleotide substitution alters the codon (CAG) for glutamine to a stop codon (TAG), predicting termination of translation at position 378 of the ABCC6 protein (Q378X). Login to comment 26 ABCC6 p.Gln378* Mutation Q378X predicted the loss of a PstI Figure 1 Detection of a frameshift mutation (c196insT) in what was initially thought to be exon 2 of the ABCC6 gene. Login to comment 32 ABCC6 p.Gln378* Figure 2 Detection of a nonsense mutation (Q378X) in what was initially thought to be exon 9 of the ABCC6 gene. Login to comment 36 ABCC6 p.Gln378* (B) Lower panel: mutation c1132C>T (Q378X) predicted the loss of a PstI restriction site. Login to comment 38 ABCC6 p.Gln378* Five healthy volunteers, who although unaVected with PXE display heterozygozity for the Q378X nonsense mutation, are shown. Login to comment 42 ABCC6 p.Gln378* To test for the presence or absence of this nucleotide change, we used PstI to digest PCR amplified genomic DNA of 79 additional controls and found all of them to be heterozygotes for the Q378X nonsense mutation (fig 2). Login to comment 75 ABCC6 p.Arg1268Gln Nat Genet 2000;25:228-31. 4 Germain DP, Perdu J, Remones V, Jeunemaitre X. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. Login to comment 99 ABCC6 p.Gln378* + We have characterised two truncating mutations (c196insT and Q378X) in the ABCC6 gene, always found in the heterozygous state, not only in PXE patients but also in all controls. Login to comment