Mutation Details for c.4264C>T
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cDNA Name
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c.4264C>T
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Protein Name
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p.Arg1422Trp
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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R1422W
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Other Details
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This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 and D993Y. No parental DNA was available at the time to determine with which allele R1422W was associated. The mutation destroys a Fnu4HI restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgeorges M
1997-08-04
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Institute
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Institut de Biologie
Montpellier
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Submitted Phenotype Details
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Patient (F) is 28y, has PI, severe lung disease and elevated sweat-chloride.
DeltaF508 and 3212C/T were found on the same allele as R1422W, D993Y was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres et al. (NL#70)
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