Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

BMC Genomics

Table 1 APBA2 intron-exon junctions

Exon	Exon Size (bp)	3' splice acceptor-5' splice donor*							Intron Size (kb)
1	117	TTT	ACA		...		TTC	TGA /gt gatg	>74
2	53	ttccag/ AAA	GAT				TTT	TAG /gt aaga	58
3	990	ccacag/ TGG	CTG		...		GAG	CAG /gt agga	20.3
							Glu	Gln
4	80	ttccag/ GTT	TGC		...		CCA	GAG /gt aatt	1.1
		Val	Cys				Pro	Glu
5	36	taacag/ ACA	AAG		...	GTG	GCT	G /gt aagt	17
		Thr	Lys			Val	Ala	Val
6	145	cttcag/ TT	CCA	GGG	...		GTC	AAG /gt agag	1.1
		Val	Pro	Gly			Val	Lys
7	35	tgtcag/ AGG	ATG		...		AAA	GCG /gt gtgt	4.2
		Arg	Met				Lys	Ala
8	86	tcttag/ AAT	TCT		...		ACG	CAG /gt aagc	3
		Asn	Ser				Thr	Gln
9	185	cgacag/ GAA	ACC		...		GAG	GAT /gt aagt	3.6
		Glu	Thr				Glu	Asp
10	179	gcacag/ GCC	CAG		...		AAG	GAG /gt aagc	1
		Ala	Gin				Lys	Glu
11	212	ttgcag/ CTG	CAG		...		ATC	AAG /gt aggc	1.5
		Leu	Gin				ISO	Lys
12	119	ctgcag/ GGC	CTG		...		GGA	ATT /gt gagt	5.5
		Gly	Leu				Gly	ISO
13	140	gcttag/ ATC	TGC		...		GGA	GAG /gt aagg	3
		ISO	Cys				Gly	Glu
14	1257	ccgcag/ ATC	CAC		...
		ISO	His

*Intron and exon sequences are shown in lower-case and upper-case, respectively, with encoded amino acids indicated below the relevant codon.

ISSN: 1471-2164