Mutation Details for c.1745C>G
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cDNA Name
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c.1745C>G
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Protein Name
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p.Thr582Arg
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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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T582R
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Other Details
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The mutation was detected by DGGE and direct sequencing. The C in position 1877 changes to G and leads to T582R. The mutation has been found in one Spanish CF patient carrying 1609delCA on the other chromosome (1 among 98 non-[delta]F508 screened). He has inherited the T582R from his mother who is originally from Aragon. The mutation is associated to a very rare microsatellite haplotype (18/37/13), in fact this man is the only CF patient we have with this haplotype. We have not found any normal chromosome carrying this haplotype neither. The patient is a 37 year old PS and has no Pseudomonas colonization. He has repiratpry problems and a sweat test with values higher than 120 mEq/1.
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Contributors
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Casals T,
Palacio A,
Nunes V,
Estivill X,
Ferec C,
Audrezet MP
1993-05-19
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Institute
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Institut de Recerca Oncologica
Barcelona, Spain
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Submitted Phenotype Details
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Patient (M) died at age 41y, had PI, severe lung disease and elevated sweat-chloride (120mM/l).
1609delCA was found on the other allele.
This is probably a mild mutation, late diagnosis (37y) is most likely the cause for this patients early death.
(Pers. corr. Casals; Casals et al. 1997)
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Reference
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Casals et al. (NL#55)
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