Research Article
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Table 2
Sequence and in silico prediction scores for splice sites created by the variants and the activated splice sites.
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Abbreviations: AS = acceptor site; DS = donor site; NA = not applicable; SSF = SpliceSiteFinder-like; WT = wild type. The nucleotides changed by the variants are underlined. Reference sequences: RefSeq NM_003477.3 for PDHX and NM_022445.3 for TPK1. |