Description
The p.N287Y variant (also known as c.859A>T), located in coding exon 7 of the CFTR gene, results from an A to T substitution at nucleotide position 859. The asparagine at codon 287 is replaced by tyrosine, an amino acid with dissimilar properties. This alteration was identified with Delta F508 in an individual with a clinical diagnosis of cystic fibrosis (Shrimpton AE et al. Hum Mutat, 1997;10:436-42). In vitro studies showed CFTR protein harboring N287Y has normal maturation, cell surface targeting, and channel gating. However, this variant increased internalization of the protein, leading to reduced expression on the cell surface (Silvis MR et al. J Biol Chem, 2003 Mar;278:11554-60). Additionally, this alteration was identified in an individual diagnosed with idiopathic chronic pancreatitis (Chang MC et al. Clin Genet, 2007 Jun;71:530-9). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |