PMID: 3123586

 

    Legend: Gene, Sites

Title : Molecular cloning of a human apoC-III variant : Thr 74---- Ala 74 mutation prevents O-glycosylation

Abstract :

1. Apolipoprotein C-III ( apoC-III ) is a major protein of very low density lipoprotein ( VLDL )
2. The apoC-III polypeptide contains a carbohydrate chain containing galactosamine, galactose, and sialic acid attached in O-linkage to a threonine residue at position 74
3. We have cloned the apoC-III gene from a subject whose serum contained unusually high amounts of apoC-III lacking the carbohydrate moiety (C-III-0)
4. DNA sequence analysis of the cloned gene revealed a single nucleotide substitution (A----G) that encodes an alanine at position 74 instead of the normal threonine
5. As a result of this amino acid replacement, the mutant apoC-III polypeptide is not glycosylated
6. The mutation in the apoC-III gene creates a novel AluI site that permits diagnosis of the change by Southern blotting of genomic DNA

Output (sent_index, trigger, protein, sugar, site):

• 2. attached, , -, galactosamine, threonine residue at position 74
• 2. contains, , -, a carbohydrate chain, polypeptide
• 5. glycosylated, , -, -, polypeptide

Output(Part-Of) (sent_index, protein, site):

• 2. apoC-III, polypeptide
• 5. apoC-III, polypeptide

*Output_Site_Fusion* (sent_index, protein, sugar, site):

 

Protein	NCBI ID	SENTENCE INDEX
apoC-III	345	1,2,3,5,6
apoC-III variant	345	0
Apolipoprotein C-III	345	1