Mutation Details for c.437A>G
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cDNA Name
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c.437A>G
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Protein Name
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p.His146Arg
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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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H146R
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Other Details
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The above mutation was detected by DGGE analysis using chemical clamps and identified by direct DNA sequencing. The mutation was not found on 100 other non-[delta]F508 CF and 100 non-CF chromosomes. H146R creates an MaeIII site. The patient is an infertile man with congenital bilateral absence of vas deferens and unknown mutation on the other chromosome.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Beldjord C,
Kaplan J C
1996-03-15
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Institute
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Laboratoire de Biochimie Génétique,
Groupe Hôspitalier Cochin,
France
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Submitted Phenotype Details
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One patient (male,41y) diagnosed at 35y with CBAVD, PS, mild pulmonary disease,sweat chloride 60mmol/l. No other mutation identified.(pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#68)
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