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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2001-3-21
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pubmed:abstractText |
The von Hippel-Lindau (VHL) gene has two translational initiation sites separated by 53 codons. Both proteins have been detected in cells and have equivalent activity. A mutation in the first 53 codons of the open reading frame has no effect on the structure of the smaller protein. As expected, the vast majority of VHL mutations are downstream of the second initiation site and alter both proteins. However, several candidate mutations have been found in the first 53 codons, including a substitution of leucine for proline at position 25 (P25L) of the larger protein.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1084-8592
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
49-54
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11257211-Adolescent,
pubmed-meshheading:11257211-Adult,
pubmed-meshheading:11257211-Aged,
pubmed-meshheading:11257211-Aged, 80 and over,
pubmed-meshheading:11257211-Amino Acid Substitution,
pubmed-meshheading:11257211-Arginine,
pubmed-meshheading:11257211-DNA Mutational Analysis,
pubmed-meshheading:11257211-Female,
pubmed-meshheading:11257211-Genes, Tumor Suppressor,
pubmed-meshheading:11257211-Genetic Predisposition to Disease,
pubmed-meshheading:11257211-Humans,
pubmed-meshheading:11257211-Leucine,
pubmed-meshheading:11257211-Ligases,
pubmed-meshheading:11257211-Male,
pubmed-meshheading:11257211-Point Mutation,
pubmed-meshheading:11257211-Polymorphism, Genetic,
pubmed-meshheading:11257211-Proline,
pubmed-meshheading:11257211-Proteins,
pubmed-meshheading:11257211-Tumor Suppressor Proteins,
pubmed-meshheading:11257211-Ubiquitin-Protein Ligases,
pubmed-meshheading:11257211-Von Hippel-Lindau Tumor Suppressor Protein,
pubmed-meshheading:11257211-von Hippel-Lindau Disease
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pubmed:year |
2001
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pubmed:articleTitle |
Is the P25L a "real" VHL mutation?
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pubmed:affiliation |
Molecular Genetics Laboratory, Children's Mercy Hospital, Kansas City, MO 64108, USA. prothberg@cmh.edu
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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