ABCB1 p.Ala123Leu
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PMID: 9614062
[PubMed]
Loo TW et al: "Superfolding of the partially unfolded core-glycosylated intermediate of human P-glycoprotein into the mature enzyme is promoted by substrate-induced transmembrane domain interactions."
No.
Sentence
Comment
48
Misprocessing mutations are located throughout the molecule; these include the transmembrane domains (e.g. A123L), intracellular (e.g. E243A) and extracellular (e.g. Y853C) loops, the linker region (e.g. E707A), and both nucleotide-binding domains (e.g. G427C, P1194A).
X
ABCB1 p.Ala123Leu 9614062:48:107
status: NEW