Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19

Table 4 Sequence changes detected by cDNA sequencing of PEPD

	Chr. Pos. (Build 37)¹	Gene Feature	Allele Change	SNP Identifier	MAF (Caucasian)²	mRNA Position	Amino Acid	Residue Change³
1	33,953,912	Exon 9	T- > C	rs3745969	0.063	793	220	Y- > Y
2	33,902,652	Exon 11	T- > C	rs74988985	0.021	877	248	G- > G
3	33,882,255	Exon 13	C- > T		0.021	1231	366	H- > H
4	33,882,222	Exon 13	C- > T	rs17569	0.104 (0.155)	1264	377	H- > H
5	33,878,845	Exon 14	G- > A		0.021	1427	432	A- > T
6	33,878,837	Exon 14	C- > T	rs17570	0.229 (0.246)	1436	435	L- > F
7	33,878,340	Exon 15	G- > T		0.021	1525	464	L- > L

¹Chromosomal position obtained from the National Center for Biotechnology Information (NCBI).
²MAF calculated for each SNP from sequencing data on 23 individuals presented in the current study. MAFs in parentheses are from HapMap CEU or other Caucasian population available at the NCBI website.
³Single letter amino acids codes are used in Residue Change column.
Chr. Pos., Chromosomal position; MAF, minor allele frequency.
For details, see Additional file 9, Table S7 and Additional file 10, Table S8.

ISSN: 1471-2350