ABCMdb

PMID: 24513531

Moran O
On the structural organization of the intracellular domains of CFTR.
Int J Biochem Cell Biol. 2014 Jul;52:7-14. doi: 10.1016/j.biocel.2014.01.024. Epub 2014 Feb 7., [PubMed]

Sentences

No. Mutations Sentence Comment

1241 ABCC7 p.Arg553Gln ABCC7 p.His667Arg ABCC7 p.Gly550Glu ABCC7 p.Arg555Lys ABCC7 p.Phe429Ser ABCC7 p.Phe429Ser ABCC7 p.Phe409Leu ABCC7 p.Phe433Leu ABCC7 p.Phe494Asn ABCC7 p.Gln637Arg However, as the native preparation of NBD1 and NBD2 tend to precipitate at relatively low concentration (>2.5 mg/ml; Galeno et al., 2011; Galfr&#e8; et al., 2012), to obtain protein concentrations compatible with the crystallization conditions, three to seven revertant mutations (F409L, F429S, F433L, G550E, R553Q, R555K, H667R, Roxo-Rosa et al., 2006; F429S, F494N, Q637R, Pissarra et al., 2008) have been introduced into the NBD1. Login to comment 1378 ABCC7 p.Leu1065Pro ABCC7 p.Arg1066Cys Two mutations in ICL4, L1065P and R1066C, prevent correct CFTR maturation (Seibert et al., 1996; Cotten et al., 1996). Login to comment