Mutation Details for c.1501A>G
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cDNA Name
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c.1501A>G
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Protein Name
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p.Thr501Ala
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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T501A
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Other Details
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This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France, who carries the rare polymorphism 3499+37G->A in intron 17b on the same chromosome. The mutation 1811+1.6KbA->G in intron 11 was found in trans.
This variation creates one restriction site for HhaI.
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Contributors
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Claustres M,
Des Georges M
Guittard C
1999-02-02
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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 8y, has PI, severe lung disease, and high (120mM/l) sweat-chloride.
3499+37G>A was found on the same allele as T501A. 1811+16KbA was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres et al. 1999
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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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