Mutation Details for c.221G>A
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cDNA Name
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c.221G>A
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Protein Name
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p.Arg74Gln
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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R74Q
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Other Details
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This mutation was seen in a patient with chronic pancreatitis (referred by Dr Joan Braganza of the Manchester Pancreato-Biliary Service) whose other chromosome has had no mutation identified mutation.
We have seen this mutation only once in over 50 chronic pancreatitis chromosomes screened.
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Contributors
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Malone G,
Andrew N,
Busby L,
Schwarz M
2000-02-01
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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The patient carries R297Q on the other allele and has chronic pancreatitis.
(pers.corr. Schwarz)
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Reference
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Malone et al. 2000
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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