Mutation Details for c.332C>T
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cDNA Name
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c.332C>T
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Protein Name
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p.Pro111Leu
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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P111L
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Other Details
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As the DNA from his parents is not yet available, we are not ablt, at the present time, to ascertain that P111L is a variant or a possible mutation. It creates a BstNI restriction site (n=438 bp, m = 190 + 248 bp), or destroys a MspI site (n = 191 + 247, m = 438 bp).
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Contributors
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Claustres M,
Romey M-C,
Desgeorges M
1994-04-21
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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de Meeus et all 1998
pers. corr. Claustres
2 Patients (M & F). The male has CBAVD and N1303K on other allele. The female is PS, has mild lung disease and sweat-chloride ranging from 12mM/l to 74mM/l and CF suspicion. No other mutation was found in this individual.
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Reference
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Claustres et al. (NL#62)
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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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