PMID: 15204624

Booth PJ, High S
Polytopic membrane protein folding and assembly in vitro and in vivo.
Mol Membr Biol. 2004 May-Jun;21(3):163-70., [PubMed]
Sentences
No. Mutations Sentence Comment
88 ABCC7 p.Val232Asp
X
ABCC7 p.Val232Asp 15204624:88:211
status: NEW
view ABCC7 p.Val232Asp details
 In the case of cystic fibrosis (see also below), detailed studies of peptides corresponding to helixÁ/ loopÁ/helix segments of the CFTR protein have shown that a hydrophobic-to-charged point mutation (V232D) in TM helix 4 induces a hydrogen bond with Gln 207 in helix 3, where this alteration is known to result in a cystic fibrosis disease phenotype [37]. Login to comment