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PMID: 15798900
Sadlish H, Skach WR
Biogenesis of CFTR and other polytopic membrane proteins: new roles for the ribosome-translocon complex.
J Membr Biol. 2004 Dec;202(3):115-26.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
166
ABCC7 p.Asp924Val
X
ABCC7 p.Asp924Val 15798900:166:61
status:
NEW
view ABCC7 p.Asp924Val details
Interestingly, removal of a single charged residue from TM8 (
D924V
) prevented Asn908 from being glycosylated and at the same time conferred TM7-independent stop transfer activity onto the TM8 hydrophobic segment (Carveth et al., 2002).
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183
ABCC7 p.Asp924Val
X
ABCC7 p.Asp924Val 15798900:183:15
status:
NEW
view ABCC7 p.Asp924Val details
Similarly, the
D924V
mutation converts TM8 to a strong, independent stop transfer sequence but dramatically decreases CFTR chloride conductance (D. Dawson and W. Skach, unpublished observations).
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