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.

Lillvis et al. BMC Medical Genetics 2011 12:14   doi:10.1186/1471-2350-12-14

Open Data