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cDNA Name
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c.1479G>A
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Protein Name
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p.Gln493Gln
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Exon or Intron
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Other Details
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Lab report from Sonora Quest Laboratories dated 4/15/2009 states: The novel CFTR gene variant detected is R1479K. It is caused by a G>A change at nucleotide 4568 in exon 24 of the CFTR gene. This single nucleotide substitution led to the replacement of an arginine by lysine at position 1479 of the translated CFTR protein. R1479 is not a well conserved amino acid among CFTR orthologs. Nevertheless, analysis of the R1479K change using PolyPhen, an online tool for prediction of the effect of amino acid changes in protein structure and function, indicated that the R1479K change is "possibly damaging".
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Contributors and Institutes
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| K. Whitley | - | Phoenix Children's Hospital |
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Submitted Phenotype Details
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Native American male from Northern AZ diagnosed at age 9. Referred for evaluation due to recurrent respiratory illness and cyclical vomiting/constipation. Other history includes- autism, developmental delay, morbid obesity (even in childhood), food/environmental allergies, asthma. Sweat testing done on two occasions with values of 68 and 64. Pancreatic sufficient. Mild lung disease. Genetic testing also showed the following polymorphisms (both of no known significance)- M470V and 2694 T>G. The PolyT status of intron 8 is 7T/7T and the TG status is 11/12
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Reference
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Sonora Quest Laboratories genetic report dated 4/15/2009
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