Mutation Details for c.169T>G
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cDNA Name
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c.169T>G
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Protein Name
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p.Trp57Gly
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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W57G
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Other Details
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This mutation has been detected in an Italian CF patient, through DGGE and direct sequencing. The mutation generates a Trp to Gly substitution. This mutation hass been detected in a PS patient (maternal chromosome), originating from Lombardy, associated with Haplotype A. The paternal chromosome carries the mutation R352Q. The W57G mutation was not detected in an additional 59 non-[delta]F508 CF chromosomes and 20 normal chromosomes.
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Contributors
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Ferrari M,
Cremonesi L,
Belloni E
1992-07-06
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Institute
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Istituto de Ricovero e Cura a Carattere Scientifico
Milano, Italy
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Submitted Phenotype Details
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The patient (female,26) was diagnosed at 22y,, is PS, has sweat chloride 101 mmol/l and severe lung disease (FEV1=35%)and had lung transplant when 30 years old. R352Q was present on the other allele.
(pers. corr. Cremonesi)
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Reference
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Ferrari et al. (NL#47)
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