Task 8 (MSUD)

From Bioinformatikpedia
Revision as of 15:02, 27 June 2013 by Schillerl (talk | contribs) (Results)

Results

Lab journal

SIFT

The following table shows the prediction of mutation effects by SIFT. 6 out of 10 mutations are predicted to affect protein function.


mutation prediction score median sequence conservation sequences represented at position
P38H tolerated 0.16 3.16 17
M82L tolerated 0.56 3.03 43
T151M tolerated 0.05 3.03 46
A222T affect protein function 0.04 3.03 46
C264W affect protein function 0.00 3.03 46
R265W affect protein function 0.00 3.03 46
R314Q affect protein function 0.01 3.03 46
R346H affect protein function 0.00 3.03 46
I361V tolerated 0.12 3.03 46
Y413H affect protein function 0.00 3.03 46


Polyphen2

The prediction resuls of Polyphen2 are shown in the following table. 7 out of 10 mutations are predicted to be probably damaging (at least for the trained set HumDiv).


HumDiv HumVar
mutation prediction score sensitivity specificity prediction score sensitivity specificity
P38H benign 0.118 0.93 0.96 benign 0.042 0.93 0.62
M82L benign 0.002 0.99 0.30 benign 0.006 0.97 0.45
T151M probably damaging 0.963 0.78 0.95 possibly damaging 0.622 0.80 0.85
A222T probably damaging 1.000 0.00 1.00 probably damaging 0.943 0.65 0.91
C264W probably damaging 0.989 0.72 0.97 possibly damaging 0.887 0.71 0.89
R265W probably damaging 1.000 0.00 1.00 probably damaging 1.000 0.00 1.00
R314Q probably damaging 1.000 0.00 1.00 probably damaging 0.998 0.18 0.98
R346H probably damaging 1.000 0.00 1.00 probably damaging 0.993 0.47 0.96
I361V benign 0.386 0.90 0.89 possibly damaging 0.610 0.80 0.83
Y413H probably damaging 1.000 0.00 1.0 probably damaging 0.999 0.09 0.99

MutationTaster

SNAP

Summary

Discussion