Research Article
Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease
Table 1
I-Mutant, SIFT and PolyPhen results of APOE.
| | | | | SIFT | PolyPhen | SNP ADs | Alleles | Amino acid change | DDG | Tolerance index | Predicted impact | PSIC score | Predicted impact |
| rs121918399 | C/T | R43C | 0.66 | 0.07 | Potentially intolerant | 1.534 | Possibly damaging | rs121918398 | A/G | R292H | −2.06 | 0.06 | Potentially intolerant | 1.979 | Possibly damaging | rs121918397 | G/A | R163H | 0.05 | 0.16 | Borderline | 1.961 | Probably damaging | rs121918395 | C/T | R246C | −0.48 | 0.06 | Potentially intolerant | 2.386 | Possibly damaging | rs121918394 | A/C | K164Q | −1.28 | 0.08 | Potentially intolerant | 1.550 | Possibly damaging | rs121918393 | C/A | R154S | −0.51 | 0.10 | Potentially intolerant | 1.962 | Possibly damaging | rs121918392 | G/A | E21K | 1.17 | 0.18 | Borderline | 1.373 | Borderline | rs41382345 | A/T | E139V | −1.32 | 0.00 | Intolerant | 2.246 | Probably damaging | rs28931579 | A/C | S314R | −0.09 | 0.12 | Borderline | 1.343 | Borderline | rs28931578 | G/A | R152Q | −0.43 | 0.01 | Intolerant | 1.772 | Possibly damaging | rs28931577 | G/A | A117T | 0.65 | 0.06 | Intolerant | 1.451 | Borderline | rs28931576 | A/G | T60A | 0.57 | 0.15 | Borderline | 0.669 | Benign | rs11542041 | C/A | R132S | −2.75 | 0.00 | Intolerant | 2.204 | Probably damaging | rs11542040 | C/A | P102T | −1.20 | 0.00 | Intolerant | 2.396 | Probably damaging | rs11542035 | G/A | R137H | 0.83 | 0.13 | Borderline | 0.080 | Benign | rs11542034 | A/G | E150G | −1.24 | 0.00 | Intolerant | 2.284 | Probably damaging | rs11542032 | G/A | E189K | −0.89 | 0.01 | Intolerant | 1.607 | Possibly damaging | rs11542030 | A/G | Q205R | 0.48 | 0.11 | Borderline | 0.794 | Benign | rs11542029 | C/T | R50C | −0.82 | 0.00 | Intolerant | 2.654 | Probably damaging | rs11542027 | C/T | S215F | 0.84 | 0.01 | Intolerant | 1.437 | Borderline | rs11083750 | C/A | P102Q | −1.15 | NA | NA | 2.396 | probably damaging | | C/G | P102R | −1.18 | NA | NA | 2.621 | probably damaging | rs769455 | C/T | R163C | 0.08 | 0.00 | Intolerant | 1.502 | Possibly damaging | rs769452 | T/C | L46P | −0.11 | 0.12 | Borderline | 1.334 | Borderline | rs429358 | T/C | C130R | −0.07 | 1.00 | Tolerant | 0.231 | Benign | rs7412 | C/T | R176C | −1.19 | 0.02 | Intolerant | 2.654 | Probably damaging |
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Note: nsSNPs which were found to be deleterious by I-Mutant and SIFT as well as PolyPhen are highlighted as bold.
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