Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Table 3

Sequence and in silico prediction scores for the splice sites surrounding exon 5 and exon 6 in PDHA1.

Splice site	Sequence	SSF (0-100)	MaxEnt (0-16)	NNSPLICE (0-1)	GeneSplicer (0-21)
Intron 4 AS	CCATTTCCAG/GAC	89,51	9,81	0,86	9,65
Intron 5 DS	CAG/GTAGTCAAGG	71,75	5,30	0,70	2,40
Intron 5 AS	TTAATGTTAG/GTG	74,81	6,92	0,93	3,33
Intron 6 DS	CAG/GTAATTATGT	87,61	8,55	0,99	1,72

Abbreviations: AS = acceptor site; DS = donor site; SSF = SpliceSiteFinder-like; WT = wild type.