Functional Analyses of c.2268dup in Thyroid Peroxidase Gene Associated with Goitrous Congenital Hypothyroidism

Table 1

(a) HSF analyses showing a summary of HSF matrices for potential splice sites, (b) ESE finder matrices for SRp40, SC35, SF2/ASF, and SRp55 proteins, (c) ESE finder matrices for ESE proteins.

(a)

Nucleotide position	Splice site type	Motif	New potential splice site	Consensus value (0–100)
−46	Acceptor	cttttctcgtagtt	cttttctcgtagTT	83.99 (CT)
−12	Acceptor	cacatttcatagAC	cacatttcatagAC	76.12 (WT)
169	Donor	AAGgtcagt	AAGgtcagt	94.02 (WT)

CT: cryptic site; WT: wild type.

(b)

Nucleotide position	cDNA position	Linked SR protein	Reference motif	Variation*
			(0–100)	(0–100)
51	c.2267	SRp40	TGTGAGG	Site broken
			(78.50)	(−100)
52	c.2268	SF2/ASF	GTGAGGA	Site broken
			(79.27)	(−100)
53	c.2269	SRp55	TGAGGA	Site broken
			(74.82)	(−100)

∗Variation expresses the difference between reference and mutant values. Wild-type value is taken as a reference.

(c)

Nucleotide position	cDNA position	Linked ESE protein	Reference motif	Variation*
			(0–100)	(0–100)
52	c.2268	9G8	GTTGAG	New site
			(63.49)	(100)

∗Variation expresses the difference between reference and mutant values. Wild-type value is taken as a reference.