Journals
Publish with us
Publishing partnerships
About us
Blog
International Journal of Endocrinology
Journal overview
For authors
For reviewers
For editors
Table of Contents
Special Issues
International Journal of Endocrinology
/
2014
/
Article
/
Tab 3
/
Research Article
Two Novel
CYP11B1
Gene Mutations in Patients from Two Croatian Families with 11
β
-Hydroxylase Deficiency
Table 3
In silico
prediction of the effects of the p.R141Q mutation in
CYP11B1
function.
Prediction software
Score
Prediction of Effects of Mutation
PolyPhen-2 (
http://genetics.bwh.harvard.edu/pph2
)
1.000
Probably Damaging
SIFT (
http://sift.jcvi.org
)
0.000
Damaging
Provean (
http://provean.jcvi.org
)
−3.769
Deleterious