Mutation Details for c.1630G>A
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cDNA Name
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c.1630G>A
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Protein Name
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p.Gly544Ser
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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G544S
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Other Details
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This mutation was identified by DGGE and direct sequencing.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1994-02-18
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a patient with neonatal hypertrypsinemia. (pers.corr. Ferec)
Scotet et al., in 2001, is reporting G544S among other 'mild' mutations being observed in carriers.
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Reference
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Férec et al. (NL#61)
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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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