Mutation Details for c.454A>G
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cDNA Name
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c.454A>G
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Protein Name
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p.Met152Val
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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M152V
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Other Details
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This mutation was discovered by SSCP. Probes synthesized for the normal and the mutant sequences showed that the patient was homozygous for this mutation.
A vlaine for a methionine change is usually regarded as a conservative one and one not causing disease. The patient in question, who is Egyptian, is 21 years old and has a somewhat mild disease and does not have any of the common mutations. Whether being homozygous for this change is enough to cuase CF or other mutation are to be found in her CFTR gene will require further study. No mutations have been found by SSCP in exon 7, 10, 11 and 21 so far.
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Contributors
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Edkins E,
Creegan R
1993-03-09
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Institute
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Princess Margaret Hospital for Children
Perth, Australia
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Submitted Phenotype Details
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Reference
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Edkins & Creegan (NL#54)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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