Mutation Details for c.2939T>A
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cDNA Name
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c.2939T>A
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Protein Name
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p.Ile980Lys
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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I980K
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Other Details
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A new missense mutation in exon 16 was found in an infertile French man with congenital bilateral absence of the vas deferens. This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome.
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-05-19
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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One patient, male, 40y, diagnosed at 32 with CBAVD, is PS, has mild pulmonary disease, sweat chloride 95 mmol/l. He is carrying delF508 on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#62)
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