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Home Q & A Board Biology-Related Homework Help Cell Biology
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mccareyt mccareyt
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8 years ago
What type of problems occur when someone has the 508del CF and 811del? 811del is rare and not on any databases. 8ii prematurely terminates protein synthesis and prevents inclusion of important functions. Is there any data any CF based jupon having these two alles?
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8 years ago
ΔF508 (delta-F508, full name CFTRΔF508 or F508del-CFTR; rs113993960) is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The mutation is a deletion of the three nucleotides that comprise the codon for phenylalanine (F) at position 508. A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is the leading cause of cystic fibrosis (CF).
Source  https://en.wikipedia.org/wiki/%CE%94F508
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