PMID: 20012660

Demmers KJ, Carter D, Fan S, Mao P, Maqbool NJ, McLeod BJ, Bartolo R, Butt AG
Molecular and functional characterization of the cystic fibrosis transmembrane conductance regulator from the Australian common brushtail possum, Trichosurus vulpecula.
J Comp Physiol B. 2010 Apr;180(4):545-61. Epub 2009 Dec 12., [PubMed]
Sentences
No. Mutations Sentence Comment
136 ABCC7 p.Val562Ile
X
ABCC7 p.Val562Ile 20012660:136:78
status: NEW
view ABCC7 p.Val562Ile details
 The only difference was seen in the Walker B motif of NBD1, where there was a valine to isoleucine substitution at amino acid 562. Login to comment 212 ABCC7 p.Val562Ile
X
ABCC7 p.Val562Ile 20012660:212:153
status: NEW
view ABCC7 p.Val562Ile details
 Although this is in a ''hot spot`` for mutations that affect CFTR function and result in CF in humans (Roxo-Rosa et al. 2006), this particular mutation (V562I) has no effect on either the trafficking or function of human CFTR (Roxo-Rosa et al. 2006). Login to comment