Mutation Details for c.1081T>A
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cDNA Name
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c.1081T>A
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Protein Name
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p.Trp361Arg
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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W361R(T->A)
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Other Details
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This mutation corresponds to a T to A substitution in exon 7. A similar mutation had been previously identified by Bienvenu et al. but the nucleotide change was T-C (Newsletter#56).
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Contributors
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Telleria J J,
Alonso M J
1998-06-01
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Institute
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Instituto de Biologia y Genetica Molecular
Facultad de Medicina,
Valladolid, Spain
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Submitted Phenotype Details
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The patient (male) was diagnosed at 6y, died at 26y,was PI, had severe lung disease and sweat chloride above 100 mmol/l. He carried delF508 on the other allele.
(pers. cprr. Telleria)
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Reference
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Telleria & Alonso 1998
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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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