Table 1 Results of APOE convergent deleterious predicted SNPs analyzed by 16 prediction tools classified in four different groups.

From: In silico analyses of deleterious missense SNPs of human apolipoprotein E3

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

  1. aAPOE amino acid positions is relative to GenBank Accession number NP_000032.1.
  2. 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.
  3. cN: Neutral; D: Deleterious; ST: Stabilizing; DT: Destabilizing; P: Pathogenic; U: Unknown.