Mutation Details for c.2175_2176insA
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cDNA Name
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c.2175_2176insA
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Protein Name
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p.Glu726ArgfsX4
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2307insA
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Other Details
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As a result of the frameshift, two consecutive in frame stop codons (both TGA) are encountered withiin five codons of the insertion site. The mutation was originally detected by chemical msmatch cleavage and subsequent sequencing. The mutation destroys and MboII restriction site and can be detected by an MboII digest.
The mutation was detected in a Black CF patient. This patient is homozygous for the insertion, has clasic CF and is pancreatic insufficient. The insertion mutation was not detected in 26 normal chromsomes nor in 32 non-[delta]F508 CF chromosomes.
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Contributors
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Smit L,
Iannuzzi M,
Tsui LC,
Collins F
1991-03-08
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Institute
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Howard Hughes Medical Institute
Ann Arbor, MI, USA
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Phenotype Information
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CFTR2
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Reference
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Smit et al. 1993
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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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