Mutation Details for c.3739G>A
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cDNA Name
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c.3739G>A
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Protein Name
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p.Gly1247Arg
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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G1247R(G->A)
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Other Details
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Patient was from Brazil and is of Afro-American origin. The G1247R mutation was detected by DGGE and direct sequencing. The patient is homozygous for the mutation, with PI and mild lung disease.
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Contributors
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Casals T,
Ramos MD,
Gimenez J,
Nunes V,
Estivill X.
Faucz F,
Raskin S.
1996-07-19
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Institute
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IRO,
Spain.
Lab. Genetika,
Brazil
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Submitted Phenotype Details
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Patient has PI and mild lung disease.
This patient is homzygous for G1247R
(Pers. corr. Casals)
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Reference
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Casals et al. (NL#69)
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