Table 2. Splice site calculations using HSF, BDGP and NetGene2 for splice site mutations found in the present study.
DNA variationa | Amino-acid exchange |
HSFb |
NetGene2c |
BDGPd |
|||
---|---|---|---|---|---|---|---|
Wt | Mut | Wt | Mut | Wt | Mut | ||
c.475-2A>G | p.Thr159_Leu209del | 93.01 | — | 0.83 | — | 0.99 | — |
c.627+1G>C | p.Thr159_Leu209del | 94.09 | 67.26 | 0.47 | — | 0.98 | — |
c.628-2A>G | p. Val210Aspfse21 | 95.05 | 66.11 | 0.92 | — | 0.95 | — |
c.954+2 T>A | p. Gly257Glufse2 | 87.31 | — | 0.91 | — | 0.98 | — |
c.1204-1G>A | p. Val402Phefse6 | 96.47 | 67.53e | 0.77 | — | 0.99 | —f |
Transcript reference: NM_005857.4.
New splice site considered with 83.93.
New splice site considered with 0.9.