Mutation Details for c.1759T>A
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cDNA Name
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c.1759T>A
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Protein Name
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p.Phe587Ile
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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F587I
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Other Details
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The nucleotide change was found by DGGE followed by sequencing of both strands. This mutation was identified in an Italian CF patient (Puglia region, Southern Italy).
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Contributors
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Polizzi A., Santostasi T., Manca A., Logrillo V.P. and Rigillo N.
2004-06-16
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Institute
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Dipartimento di Biomedicina dellEtˆ Evolutiva-Laboratorio Fibrosi Cistica-Policlinico-Universitˆ degli Studi di Bari- Bari-ITALY
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Submitted Phenotype Details
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The patient is an infertile male with CBAVD (40 years old) and sweat cloride 82mEq/L. This patient has [delta]F508 mutation on the other chromosome and he is otherwise asymptomatic. (pers.corr.Polizzi)
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Reference
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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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