Table 2 Results of bioinformatics analyses of the novel mutation in this study
From: A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
Chr | Start | Ref | Alt | Function | Gene | BayanGene | avsnp147 | Frequency |
|---|---|---|---|---|---|---|---|---|
1 | 25,812,784 | C | T | exonic | SELENON | 1 | rs767530943 | 0.000018 |
SIFT | Polyphen2 | LRT | Mutation Taster | Mutation Assessor | FATHMM | REVEL | MCAP | CADD _phred |
D | D | N | D | M | D | 0.73 | . | 18.91 |