Table 1 MLPA results of Multiexon deletion (> 25) and missing amino acids with the predicted PROVEAN scores. IF/OF (In frame/ out of frame)
S.No | Case no | Diagnosis | MLPA results | OF/IF | Protein deleted | Pathogenicity score |
|---|---|---|---|---|---|---|
1 | P1 | DMD | Exon 8–47 deletion | OF | D217_L2255del | −3506.484 |
2 | P3 | DMD | Exon 17–52 deletion | OF | I665_R2553del | −3407.885 |
3 | P4 | DMD | Exon 8–41 deletion | OF | D217_I1974del | −3205.69 |
4 | P9 | DMD | Exon 11–41 deletion | IF | G384_I1974del | −3138.91 |
5 | P10 | BMD | Exon 14–42 deletion | IF | V535_K2039del | −2953.782 |
6 | P11 | DMD | Exon 3–34 deletion | IF | F32_V1559del | −2804.117 |
7 | P12 | DMD | Exon 3–34 deletion | IF | F32_V1559del | −2804.117 |
8 | P13 | DMD | Exon 11–31 deletion | IF | G384_Q1448del | −2374.516 |
9 | P16 | DMD | Exon 3–25 duplication | IF | F32_Q1144del | −2020.217 |