Table 1.

In silico and functional splicing analysis from five prediction algorithms and in vitro RT-PCR analysis of mRNA transcripts

cDNA positiona	SSF (0–100)		MaxEntScan (0–16)		NNSPLICE (0–1)		GeneSplicer (0–21)		HSF (0–100)		In vitro observed mRNA transcripts
	WT	MUT	WT	MUT	WT	MUT	WT	MUT	WT	MUT
Canonical splice site
c.1141	82.52	NE	8.27	1.58	0.74	NE	2.77	NE	88.42	85.82	0%
Cryptic splice site
c.1141-6	NE	76.86	NE	5.30	NE	NE	NE	NE	NE	78.15	21%
c.1150	NE	NE	NE	NE	NE	NE	NE	NE	72.75	72.75	0%
c.1169	83.44	83.44	6.12	6.12	0.64	0.64	NE	NE	87.60	87.60	21%
c.1171	72.43	72.43	NE	NE	NE	NE	NE	NE	76.93	76.93	4%
c.1216	88.37	88.37	8.92	8.92	0.67	0.67	NE	NE	91.52	91.52	0%

SSF Splice Site Finder-like, HSF Human Splicing Finder, WT wild type, MUT mutant, NE not evaluated

^aFirst nucleotide of the acceptor splice site