PMID: 22573477

Masica DL, Sosnay PR, Cutting GR, Karchin R
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22., [PubMed]
Sentences
No. Mutations Sentence Comment
153 ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 22573477:153:236
status: NEW
view ABCC7 p.Thr338Ile details
ABCC7 p.Gly85Val
X
ABCC7 p.Gly85Val 22573477:153:227
status: NEW
view ABCC7 p.Gly85Val details
ABCC7 p.Arg933Gly
X
ABCC7 p.Arg933Gly 22573477:153:129
status: NEW
view ABCC7 p.Arg933Gly details
ABCC7 p.Gly550Arg
X
ABCC7 p.Gly550Arg 22573477:153:119
status: NEW
view ABCC7 p.Gly550Arg details
Of the 103 test-set mutations, two CF-neutral mutations had a score higher than one standard deviation above the mean (G550R and R933G), and two CF-causing mutations had scores lower than one standard deviation below the mean (G85V and T338I); these four mutations were consistently the most difficult to accurately rank with our method. Login to comment