Mutation Details for c.3415A>G
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cDNA Name
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c.3415A>G
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Protein Name
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p.Ile1139Val
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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I1139V
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Other Details
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This mutation is a missense mutation which is caused by a substitution of an A to a G at nucleotide position 3547. Ile is therefore substituted to Val at amino acid position 1139 : I1139V. This mutation has been detected once among 55 unrelated Belgian CF chromosome.
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Contributors
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Teng H,
Cuppens H,
Cassiman JJ
1993-12-13
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Institute
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Submitted Phenotype Details
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One subject, male, father of CF patient.
3849+10kbC->T on the other allele.
(pers. corr. De Boeck)
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Reference
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Teng et al. 1994
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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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