G622d Variant Phenotypes

Price 2019 - G622d Variant Phenotypes, The p.gly622asp (g622d) mutation, frequently found in, 1. j cyst fibros. 2015 may;14(3):305-9. doi: 10.1016/j.jcf.2014.11.001. epub 2014 nov 28. the p.gly622asp (g622d) mutation, frequently found in reunion island and in black populations, is associated with a wide spectrum of cf and cftr-rd phenotypes.. Functional assays are essential for interpretation of, Variant g622d (c.1865g>a [p.gly622asp]) permitted higher amounts of cftr function at 18.2% of wt-cftr function, consistent with its partial expressivity. 29 marion h.. Missense variants in cftr nucleotide-binding domains, Clinical phenotypes were defined as not cf-causing, indeterminate or cf-causing. to achieve dichotomization, variants defined as indeterminate were either excluded, grouped with variants defined as cf causing or grouped with the not cf-causing class (i.e. three individual roc curves per chart). continuous variables are pose scores resulting from 20 leave-one-out calculations trained on each of six individual endophenotypes..