Table 1.
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.