Research Article
Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A
Table 1
Pathogenic nsSNPs predicted by different online tools.
| dbSNP rs# | SUB | SIFT prediction | Score | Polyphen prediction | Score | PROVEAN prediction | Score | SNAP2 prediction | Score |
| rs778130435 | F46S | Affect | 0 | Probably damaging | 1 | Deleterious | −7.014 | Effect | 48 | rs746927118 | V67F | Affect | 0 | Probably damaging | 1 | Deleterious | −4.221 | Effect | 36 | rs979765709 | T120I | Affect | 0 | Probably damaging | 1 | Deleterious | −5.216 | Effect | 83 | rs149031604 | T147I | Affect | 0 | Probably damaging | 1 | Deleterious | −5.544 | Effect | 79 | rs119476049 | R217Q | Affect | 0 | Probably damaging | 1 | Deleterious | −3.749 | Effect | 95 | rs1212638776 | A359T | Affect | 0 | Probably damaging | 1 | Deleterious | −3.722 | Effect | 20 | rs864622269 | R495W | Affect | 0 | Probably damaging | 1 | Deleterious | −7.265 | Effect | 73 | rs1242753115 | G504E | Affect | 0 | Probably damaging | 1 | Deleterious | −7.659 | Effect | 78 |
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