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. 2017 May 30;7:2509. doi: 10.1038/s41598-017-01737-w

Table 1.

Results of APOE convergent deleterious predicted SNPs analyzed by 16 prediction tools classified in four different groups.

SNP rs # Amino Acid Changea ValidationMethodb Sequence-Basedc SLM-Basedc Consensus-Basedc Structure-Basedc
SIFT Provean Mutation Assessor Panther MutPred EFIN SNAP SuSPect Condel MetaSNP PON-P2 Predict SNP PolyPhen SDM Fold-X PoPMuSiC
rs11083750:C > A Pro102Arg Cluster D D D U N D D D D D P D D N DT DT
rs11542041:C > A Arg132Ser 1000 G D D D D D D D D N D P D D D DT DT
rs7412:C > T Arg176Cys 1000 G, cluster, freq. D D D D D D D D D D N D D N DT DT
rs557715042:G > T Trp294Cys 1000 G, freq. D D D U D D D N D N P D D D DT DT

aAPOE amino acid positions is relative to GenBank Accession number NP_000032.1.

b1000G: SNP has been sequenced in the 1000 Genomes Project; freq.: Validated by frequency or genotype data: minor alleles observed in at least two chromosomes; cluster: Validated by multiple, independent submissions to the refSNP cluster.

cN: Neutral; D: Deleterious; ST: Stabilizing; DT: Destabilizing; P: Pathogenic; U: Unknown.