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Gives instruction on how to make a protein called CF transmembrane conductance regulator (CFTR) [1].

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Normal Template DNA Sequence [2]:
5’- AAC TGG ATG ATC TTT GGT GCC CTT AAG -3’

Complementary DNA Sequence:
3’- TTG ACC TAC TAG AAA CCA CGG GAA TTC-5’

mRNA Sequence:
5’- AAC UGG AUG AUC UUU GGU GCC CUU AAG -3’

Amino Acid Sequence:
NH2- Glu-Phe-Pro-Trp-Phe-Leu-Val-Gly-Glu-COOH

OR

5’- Glutamic Acid-Phenylalanine-Proline-Tryptophan-Phenylalanine-Leucine-Valine-Glycine-Glutamine- 3’

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Complementary DNA Sequence:
3’- TTG ACC TAC TAA CCA CGG GAA TTC -5’

mRNA Sequence:
5’- AAC UGG AUG AUU GGU GCC CUU AAG -3’

Amino Acid Sequence:
NH2- Glu-Phe-Pro-Trp-Leu-Val-Gly-Glu -COOH

OR

5’- Glutamic Acid-Phenylalanine-Proline-Tryptophan-Leucine-Valine-Glycine-Glutamine- 3’

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The most common mutation that causes cystic fibrosis is the deletion of 3 nucleotides [3]. This deletion causes the reading frame to be disrupted because the 3 nucleotide deletion is spread out between two different codons: the 507 codon ATC that codes for the amino acid Isoleucine and the ΔF508 codon that codes for the amino acid phenylalanine [3].

There are two ways that this mutation can happen on the complementary DNA strand. The first way is the last two nucleotides (TC) of the 507 isoleucine codon (ATC) and the first nucleotide (T) of ΔF508 codon (TTT) [3]. The second way is the last nucleotide (C) of the 507 isoleucine codon (ATC) and the first nucleotides (TT) of the ΔF508 codon (TTT) [3].

In both instances the mutation causes the 507 codon to have a silent codon change from ATC to ATT. It also causes the deletion of the amino acid phenylalanine that is coded by the “normal” 508 codon [3].

This phenylalanine causes channel processing defects and gating problems because it causes the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein to be misfiled and sent to the endoplasmic reticulum to get degraded due to endoplasmic reticulum-associated degradation [3].

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Early Symptoms include having a blocked intestine at birth, salty sweat or skin,breathing problems, low energy levels, and a cough[4]. As symptoms worsen, they may include wheezing and a cough that produces mucus with blood, trouble exercising, and rectal prolapse[4]. Later symptoms may include infertility, growths in the nose/sinuses, and clubbing of the fingers[4].

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7q13.2-q13.4 on Chromosome 7 [5].

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[1] Medline Plus. 2020 Aug 18. CFTR gene: MedlinePlus Genetics. medlineplusgov. https://medlineplus.gov/genetics/gene/cftr/#conditions.

[2] 2015. Ebiacuk. [accessed 2022 Oct 27]. https://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_663.xml.
[3] Lazrak A, Fu L, Bali V, Bartoszewski R, Rab A, Havasi V, Keiles S, Kappes J, Kumar R, Lefkowitz E, et al. 2013. The silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunction. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 27(11):4630–45. doi:10.1096/fj.13-227330. https://www.ncbi.nlm.nih.gov/pubmed/23907436/.

[4] Symptoms. stanfordhealthcareorg. https://stanfordhealthcare.org/medical-conditions/chest-lungs-and-airways/adult-cystic-fibrosis/symptoms.html.
[5] Entry - %603855 - CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1 - OMIM. omimorg. [accessed 2022 Oct 27]. https://omim.org/entry/603855?search=cystic%20fibrosis&highlight=cystic%20fibrosi.

[6] Phenylalanine - an overview | ScienceDirect Topics. 2012. Sciencedirectcom. https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/phenylalanine.

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The gene acts like a channel that produces mucus, saliva, sweat and digestive enzymes across the membrane of different cells [6].

The channel transports chloride ions in and out of the tissues [6]. The chloride ions are particles that are negatively charged which helps the body produce thin and free flowing mucus by controlling the movement of water in tissues [6].

The CFTR protein also helps regulate other channels. Another example is that it helps transport sodium ions which are positively charged particles [6].

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The deletion of phenylalanine will create a protein deficiency which creates less energy fuel [6]. Phenylalanine is also found buried within proteins and serves a role in protein folding[6]. The deletion of this disrupts the folding and therefore the function[6].