Table 4 |
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Computational predictions of the functional significances of 3 non-synonymous SNPs in the TRPM6 and TRPM7 genes |
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rs# |
SNP |
Functional Prediction Algorithm |
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|
|
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|
PMut Score [Reliability index]a |
PolyPhen scoreb |
SIFT Scorec |
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|
|
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|
rs3750425 |
Val1393Ile (TRPM6) |
0.0250 [9] (Neutral) |
1.026 (Borderline) |
0.04 (Intolerant) |
|
rs2274924 |
Lys1584Glu (TRPM6) |
0.2565 [4] (Neutral) |
0.256 (Benign) |
<0.001 (Intolerant) |
|
rs8042919 |
Thr1482Ile (TRPM7) |
0.7987 [5] (Pathological) |
1.079 (Borderline) |
0.03 (Intolerant) |
|
|
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a. The range of the PMut prediction score is from 0 to 1; a score over 0.5 suggests an effect on protein function and a score <0.5 indicates that the substitution is likely neutral. The range of the reliability index is from 0 to 9; the higher the number, the more reliable is the prediction. b. PolyPhen Scores: 1.49–1.25 are designated as "Potentially damaging to function"; 1.24–1.00, "Borderline"; and <1.00, "Benign". c. The SIFT scores are limited to the range of 0.0 to 1.0. Variants are classified as "Intolerant" (0.00–0.05), "Potentially intolerant" (0.051–0.10), "Borderline" (0.101–0.20), and "Tolerant" (0.201–1.00). |
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Song et al. BMC Medical Genetics 2009 10:4 doi:10.1186/1471-2350-10-4 |
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