ABCA3 p.Ser198Phe
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PMID: 26186947
[PubMed]
Mulugeta S et al: "Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease."
No.
Sentence
Comment
300
Resulting from the substitution of valine for glycine at codon 231 (G231V) or serine for phenylalanine at codon 198 (F198S) in the CRD of the SP-A protein, when expressed in lung cell lines or primary murine AT2 cells, the resulting mutant SFTPA2 protein products were proximally retained, failed to be secreted, and activated the UPR (99).
X
ABCA3 p.Ser198Phe 26186947:300:78
status: NEW