Research Article

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis

Table 3

Confirmation of the deleterious nsSNPs by other prediction software.

AASLRTMutation TasterMutation AssessorPROVEANFATHMMVEST3MetaLRM-CAPCADDDANNFATHMM-MKKPhD-SNPPANTHERSNP-GOSNAP2

G330EDDHDDDDDDDDDDDE
C102SDDMDDDDDDDDDDDE
C174RDDHDDDDDDDDDDDE
G107DDDLDDDDDDDDDDDE
R125WDDLDDTDDDDDDDNE
G327RDDHDDDDDDDDNDNE
P290LDDMDTDDDDDDNDNE
K355TDDMNDDDDDDDDDNE
Q353RDDMNDDDDDDDDDNE
D336NDDMNDTDDDDDDDNE
T153NDDMNDTDDDDDDDNE
C75SDDLDDDDDDTDNDNE
P87SDDLNDDDDDDDDDNE
T144MDDLNDDDDDDDNDNE
R118LDDLDDDTDDDDDDNE
D397YNDMDDTDDDTDDDNE
R301WDDMDTDTDDDDNDNE
P249SDDMNTTDDDDDNDNN
D41EDPLNDTTDDTDDDNN
S19NNPLNDTDDDDDNDNN
R167WNDLNDTDDDDDNNNE
A96GDDLNTDTDDDDNDNN
P181SNDLNTDTDDTDNNNN

D: deleterious; T: tolerated; U: unknown; L: low; N: neutral; M: medium; P: polymorphism; E: effect. Thresholds for all these predication tools are given in the S4 fill.