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. 2013 Oct 30;22(8):1002–1011. doi: 10.1038/ejhg.2013.258

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
a

Transcript reference: NM_005857.4.

e

New splice site considered with 83.93.

f

New splice site considered with 0.9.