Mutation Details for c.1730A>T
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cDNA Name
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c.1730A>T
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Protein Name
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p.Tyr577Phe
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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Y577F
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Other Details
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Mutation Y577F and 1874insT were found together in another CF patient from Austria; this boy is also heterozygous for [delta]F508.
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Contributors
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Dörk T,
Skawran B,
Antonin W,
Ebhard M,
Stegh A,
Ellemunter H,
Schmidtke J,
Stuhrmann M
1995-12-07
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Institute
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Medizinische Hochschule
Hannover, Germany
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Submitted Phenotype Details
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Patient (M) is 15y, has PI, severe lung disease (FEV1=27%) and elevated sweat-chloride levels (116mM/l). He has PA colonisation and spenomegalie.
1874insT was found on the same allele as Y577F, DeltaF508 was found on the other allele.
(Dörk, contribution to CFMD; Stuhrmann et al. 1997)
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Reference
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Dörk et al (NL#67)
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