ABCMdb

PMID: 17113596

Cui L, Aleksandrov L, Chang XB, Hou YX, He L, Hegedus T, Gentzsch M, Aleksandrov A, Balch WE, Riordan JR
Domain interdependence in the biosynthetic assembly of CFTR.
J Mol Biol. 2007 Jan 26;365(4):981-94. Epub 2006 Nov 10., [PubMed]

Sentences

No. Mutations Sentence Comment

180 ABCC7 p.Asn1303Lys Furthermore, it is known in at least one instance that an NBD2 missense mutation, N1303K, results in a reduced amount of mature CFTR at steady-state.29 Therefore, NBD2 is not entirely without influence on the stability of the full-length molecule. Login to comment 182 ABCC7 p.Asn1303Lys Furthermore, it is known in at least one instance that an NBD2 missense mutation, N1303K, results in a reduced amount of mature CFTR at steady-state.29 Therefore, NBD2 is not entirely without influence on the stability of the full-length molecule. Login to comment 209 ABCC7 p.Asn900Asp ABCC7 p.Asn894Asp Complex N-glycosylation of EL1 only, was confirmed when EL4 glycosylation sites were mutated14 (substitutions N894D/N900D), and of both EL1 and EL4 when sites were present in both loops. Login to comment 211 ABCC7 p.Asn900Asp ABCC7 p.Asn894Asp Complex N-glycosylation of EL1 only, was confirmed when EL4 glycosylation sites were mutated14 (substitutions N894D/N900D), and of both EL1 and EL4 when sites were present in both loops. Login to comment