Title : Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

Pub. Date : 1992 Aug 15

PMID : 1502149






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The propositus was heterozygous; the coding region of his apoAI gene contained both the normal sequence and a single-base substitution changing the codon for residue 60 of the mature protein from CTG (leucine) to CGG (arginine). Leucine apolipoprotein A1 Homo sapiens
2 Electrospray mass spectrometry of the purified 10-kDa material revealed components with mass corresponding to the N-terminal 88, 92, 93, and 94 residues of apoAI each with substitution of arginine for leucine. Leucine apolipoprotein A1 Homo sapiens