Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis

BMC Genomic Data

Table 2 Missense variants predicted as deleterious by SNPs&GO, PhD-SNP, PANTHER, and PROVEAN

SUB	PhD-SNP			SNPs&GO			PROVEAN		PANTHER
SUB	Score	RI	Pred	Score	RI	Pred	Score	Pred	Score	Pred
A137D	0.922	8	Dis	0.879	8	Dis	−5.533	Del	0.85	ProbDam
S141 F	0.963	9	Dis	0.933	9	Dis	−5.771	Del	0.89	ProbDam
F142S	0.935	9	Dis	0.855	7	Dis	−7.784	Del	0.89	ProbDam
R151G	0.816	6	Dis	0.704	4	Dis	−5.376	Del	0.5	ProbDam
D161H	0.895	8	Dis	0.790	6	Dis	−6.701	Del	0.89	ProbDam
S270 F	0.883	8	Dis	0.436	1	Neut	−6.000	Del	0.85	ProbDam
K280 T	0.886	8	Dis	0.798	6	Dis	−6.000	Del	0.89	ProbDam
K280R	0.864	7	Dis	0.714	4	Dis	−3.000	Del	0.89	ProbDam
P283L	0.934	9	Dis	0.823	6	Dis	−9.767	Del	0.89	ProbDam
Q284H	0.839	7	Dis	0.722	4	Dis	−5.000	Del	0.89	ProbDam
S293G	0.705	4	Dis	0.621	2	Dis	−4.000	Del	0.89	ProbDam
G296S	0.883	8	Dis	0.811	6	Dis	−6.000	Del	0.89	ProbDam
S298G	0.768	5	Dis	0.591	2	Dis	−4.000	Del	0.85	ProbDam
D305G	0.866	7	Dis	0.801	6	Dis	−7.000	Del	0.89	ProbDam
G308R	0.900	8	Dis	0.829	7	Dis	−8.000	Del	0.89	ProbDam
G308 V	0.869	7	Dis	0.814	6	Dis	−9.000	Del	0.89	ProbDam
G309 V	0.811	6	Dis	0.762	5	Dis	−9.000	Del	0.89	ProbDam
H353D	0.931	9	Dis	0.691	4	Dis	−9.000	Del	0.89	ProbDam
Y357H	0.916	8	Dis	0.757	5	Dis	−4.967	Del	0.89	ProbDam

Del Deleterious, Dis Disease, Neut Neutral, Pred Prediction, ProbDam Probably Damaging, RI Reliability Index, SUB Amino acid substitution

ISSN: 2730-6844