TABLE 1.

Localization of STUB1 wild-type splice sites, alternative/cryptic splice sites in intron 3, and predicted scores.

Localization (intron)	donor/acceptor	Position1	flanking sequence	Score2
1	donor	159	CCGCGCGATCgtgagtgcgc	6.476
1	acceptor	160	tggtccctagACCCGGAACC	4.097
2	donor	358	CTGCAGCGAGgttggctgac	8.622
2	acceptor	359	cgttccccagCTTACAGCCT	7.226
exon 33	donor	517	GCCGCGGAGCgtgagagtg	4.558
3	donor	524	AGCGTGAGAG[g/]tgggaccct	10.637
3	acceptor	524 + 94	tggcaagcagGAAATGTGG	3.235
3	donor	524 + 99	AGCAGGAAATgtggggaagt	4.739
3	donor	524 + 133	TGAGATTGGGgtgtggtcag	7.563
3	donor	524 + 138	TTGGGGTGTGgtcagacatc	4.604
3	donor	524 + 155	ATCTGGCCAGgtccatctct	6.113
3	acceptor	525	caacccccagGGAGCTGGAA	5.407
4	donor	612	GGCCAAGCACgtgagggtgc	5.932
4	acceptor	613	ctcttcacagGACAAGTACA	8.057
5	donor	669	GAAGAGGAAGgtgagtgtgt	14.722
5	acceptor	670	tgtgccacagAAGCGAGACA	5.399
6	donor	786	GCACCTGCAGgtgaggcctg	17.356
6	acceptor	787	gtcactgcagCGTGTGGGTC	8.476

Localization of wild type splice sites are given in bold. Alternative/cryptic splice sites are given in italic. ¹First or last cDNA position of the corresponding exon is given. Exonic sequence is given in capitals, intronic sequence in lower letters. Pathogenic variant c.524+1G>A is highlighted in red. ²Scores were generated with the Alternative Splice Site Predictor (ASSP). Scores of the preprocessing models reflecting splice site strength, i.e., a position specific score matrix for putative acceptor sites, and a maximum dependence decomposition model for putative donor sites (Wang and Marín, 2006). ³This splice donor located in exon 3 was predicted only in the presence of the pathogenic variant c.524+1G>A.