Mutation Details for c.1654C>A
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cDNA Name
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c.1654C>A
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Protein Name
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p.Gln552Lys
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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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Q552K
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Other Details
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The mutation Q552K was detected by DGGE and direct sequencing in a patient from Brazil (Afro-American origin), he is homozygous for this mutation, with PI and mild lung involvement.
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Contributors
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Faucz F,
Raskin S.
Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill X.
1996-08-08
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Institute
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Lab. Genetika,
Curitiba, Brazil.
IRO,
Barcelona, Spain.
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Submitted Phenotype Details
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Reference
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Faucz et al. (NL#69)
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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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