ABCC9 p.Leu1544Pro
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PMID: 16442101
[PubMed]
Frelet A et al: "Insight in eukaryotic ABC transporter function by mutation analysis."
No.
Sentence
Comment
425
In SUR1, L1544P resulted in impaired function as well as ER retention and displayed diminished glycosylation while R1394H resulted in retention within the Golgi network associated with absence of functional channels [204-206].
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ABCC9 p.Leu1544Pro 16442101:425:9
status: NEW448 R1394H or L1544P mutations (SUR1) have been shown to impair normal trafficking of the protein to the plasma membrane [208].
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ABCC9 p.Leu1544Pro 16442101:448:10
status: NEW