Mutation Details for c.3737C>T
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cDNA Name
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c.3737C>T
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Protein Name
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p.Thr1246Ile
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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T1246I
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Other Details
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A novel mutation was identified by DGGE and direct sequencing; the nucleotide change C->T at position 3869leads to T1246I in exon 20. This mutation was identified on a CF chromosome of an Irish patient, in collaboration with Dr. Watson.
This was also discovered by Malone, Haworth, and Schwarz. The mutation was identified by direct DNA sequencing. It is the substitution of a single base (C to T) at position 3869, which results in the replacement of a threonine residue by an isoleucine residue at codon 1246. The patient's other CF mutation is [delta]F508, but we have yet been unable to show that it is on his other CF chromosome.
We note that there are a number of other isoleucine substitutions (two with threonine: at 1059 and at 1220) which have been classified as polymorphins, and for this reason we are uncertain of the status of T1246I. We have seen this sequence change once in approximately 60 non-[delta]F508 CF chromosomes so far analysed.
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Contributors
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Ferec C,
Verlingue C,
Quere I,
Raguenes O,
Audrezet M-P,
Mercier B
Malone G,
Haworth A,
Schwarz M
1994-10-10
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Institute
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Centre de transfusion sanguine et de Biogenetique
Brest, France
Manchester Children's Hospital
Manchester, UK
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Submitted Phenotype Details
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This mutation was identified on a CF chromosome of an Irish CF patient carrying deltaF508 on the other allele.(pers.corr. Ferec)
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Reference
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Férec et al. (NL#64)
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