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.
AAS
LRT
Mutation Taster
Mutation Assessor
PROVEAN
FATHMM
VEST3
MetaLR
M-CAP
CADD
DANN
FATHMM-MKK
PhD-SNP
PANTHER
SNP-GO
SNAP2
G330E
D
D
H
D
D
D
D
D
D
D
D
D
D
D
E
C102S
D
D
M
D
D
D
D
D
D
D
D
D
D
D
E
C174R
D
D
H
D
D
D
D
D
D
D
D
D
D
D
E
G107D
D
D
L
D
D
D
D
D
D
D
D
D
D
D
E
R125W
D
D
L
D
D
T
D
D
D
D
D
D
D
N
E
G327R
D
D
H
D
D
D
D
D
D
D
D
N
D
N
E
P290L
D
D
M
D
T
D
D
D
D
D
D
N
D
N
E
K355T
D
D
M
N
D
D
D
D
D
D
D
D
D
N
E
Q353R
D
D
M
N
D
D
D
D
D
D
D
D
D
N
E
D336N
D
D
M
N
D
T
D
D
D
D
D
D
D
N
E
T153N
D
D
M
N
D
T
D
D
D
D
D
D
D
N
E
C75S
D
D
L
D
D
D
D
D
D
T
D
N
D
N
E
P87S
D
D
L
N
D
D
D
D
D
D
D
D
D
N
E
T144M
D
D
L
N
D
D
D
D
D
D
D
N
D
N
E
R118L
D
D
L
D
D
D
T
D
D
D
D
D
D
N
E
D397Y
N
D
M
D
D
T
D
D
D
T
D
D
D
N
E
R301W
D
D
M
D
T
D
T
D
D
D
D
N
D
N
E
P249S
D
D
M
N
T
T
D
D
D
D
D
N
D
N
N
D41E
D
P
L
N
D
T
T
D
D
T
D
D
D
N
N
S19N
N
P
L
N
D
T
D
D
D
D
D
N
D
N
N
R167W
N
D
L
N
D
T
D
D
D
D
D
N
N
N
E
A96G
D
D
L
N
T
D
T
D
D
D
D
N
D
N
N
P181S
N
D
L
N
T
D
T
D
D
T
D
N
N
N
N
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.