Mutation Details for c.2T>C
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cDNA Name
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c.2T>C
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Protein Name
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p.Met1Thr
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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M1T
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Other Details
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This mutation is supposed to prevent initiation of the translation. It abolishes a NlaIII restriction site. It was found in a CF girl with a mild PS form, nasal polyposis and positive sweat tests. She carries R334W on the other CF chromosome.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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M1T was found in 2 patients 11 and 9y, one F, one M diagnosed in infancy, PS, with mild (FEV1=70%) pulmonary symptoms and positive sweat chloride and nasal polyposis. R334W was found on the other allele. (pers. corr. Girodon).
This mutation was also identified in a female subject from Reunion Island. Her sweat test was 118 meq/l and showed gastrointestinal symptoms. At the age of 7 months, she presented no lung disease. Her other CF mutation was 3120+1G>A.
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Reference
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Girodon et al. 1999
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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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