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Table 2 Splice site prediction with NNSplice 0.9 and NetGene2 v. 2.4. AY604046.1

From: An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome

NNSplice 0.9

Acceptor site predictions:

Start

End

Sequence (5'-> 3')

Function

 

80131

80150

tatgttttaggcatcctgga

Exon 2 acceptor

 

85469

85488

tcctttgca gaaagaattta

Exon 2 acceptor

 

Alternative acceptor sites:

Start

End

Sequence (5'-> 3')

Localization

Effect on FGF10 transcript

81353

81372

tccctcccagagacagatca

Intron 2

insertion of 4116 bp

81899

81918

ctaatatcaggtccactttt

Intron 2

insertion of 3570 bp

82609

82628

ctcccaatagattgtgacct

Intron 2

insertion of 2860 bp

84430

84449

ctatttttagtatagacggg

Intron 2

insertion of 1039 bp

85062

85081

tttccttcagttctattttt

Intron 2

insertion of 407 bp

86294

86313

tctttctaagttatttattt

Exon 3, 3'-UTR

deletion of 825 bp

86384

86403

ttttattcagcacaccacat

Exon 3, 3'-UTR

deletion of 915 bp

NetGene2 v. 2.4

Acceptor site predictions:

position 5'-> 3'

 

Sequence (5'-> 3')

Function

 

80140

 

TATGTTTTAG*GCATCCTGGA

Exon 2 acceptor

 

85478

 

TCCTTTGCAG *AAAGAATTTA

Exon 2 acceptor

 

Alternative acceptor sites:

position 5'-> 3'

 

Sequence (5'-> 3')

Localization

Effect on FGF10 transcript

82618

 

CTCCCAATAG*ATTGTGACCT

Intron 2

insertion of 2860 bp

86393

 

TTTTATTCAG*CACACCACAT

Exon 3, 3'-UTR

deletion of 915 bp

  1. AY604046.1 Both algorithms anticipate the loss of the regular splice acceptor site of FGF10 exon 3 caused by the c.430-1, G > A aberration. Several alternative acceptor splice sites are proposed. Localization according to GenBank Accession No. AY604046.1.