Table 6 Frequency distribution of various structural and functional parameters among groups classified based on mutation location (conserved or variable domains) and their association by Fisher’s exact test
From: Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?
Parameters | Number | Domain location | P | ||
|---|---|---|---|---|---|
Variable | Average | Conserve | |||
Nature of Mutation | Polar | 3 | 6 | 18 | 0.806 |
Non Polar | 3 | 4 | 21 | ||
Charged | 2 | 1 | 10 | ||
PROVEAN Phenotype | Deleterious | 4 | 11 | 47 | <0.0001 |
Neutral | 4 | 0 | 2 | ||
PHD-SNP Phenotype | Disease | 5 | 11 | 47 | 0.002 |
Neutral | 3 | 0 | 2 | ||
SIFT Phenotype | Affect Protein | 0 | 8 | 44 | <0.0001 |
Tolerant | 8 | 3 | 5 | ||
DDG iMutant Stability | Decrease | 8 | 10 | 45 | 0.694 |
Increase | 0 | 1 | 4 | ||
EcoDDG Stability | Destabilize | 7 | 9 | 44 | 0.757 |
Stabilize | 1 | 2 | 5 | ||
EcoEntropy Dynamut Flexibility | Decrease | 4 | 5 | 29 | 0.666 |
Increase | 4 | 6 | 20 | ||
HumDiv Phenotype | Benign | 4 | 0 | 3 | 0.002 |
Possibly Damaging | 1 | 2 | 5 | ||
Probably Damaging | 3 | 9 | 41 | ||
RegulomeDB | 2b + 3a | 1 | 2 | 8 | 0.769 |
4 | 6 | 8 | 32 | ||
5 | 0 | 1 | 8 | ||