Table 1a MEP1A polymorphisms

From: MEP1A allele for meprin A metalloprotease is a susceptibility gene for inflammatory bowel disease

ID a

Exon

Position of aa

Domain

dbSNP b

Alleles c

Affected residue

732

8

241

Astacin

rs6920863d

G/A SNP

Syn Q

1414

11

469

TRAF

rs2274658d

G/T SNP

Non-syn V/L

1435

11

476

TRAF

rs12197930d

A/G SNP

Non-syn R/G

1620

12

537

TRAF

 

G/A SNP

Syn A

1674

12

555

TRAF

rs4714952d

G/A SNP

Syn T

1825

13

606

I-domain

rs2297020

A/T SNP

Non-syn T/S

1909

13

634

I-domain

rs2297019d

A/G SNP

Non-syn M/V

2326

14

—

3′-UTR

 

12-bp inserte

—

2417f

14

—

3′-UTR

rs1059276d

C/A SNP

—

  1. aPolymorphism ID according to position on mRNA GenBank acc. NM_005588 17 Nov 2006 (A of the AUG initiation codon=10).
  2. bBuild 126 (Mar 2006).
  3. cMinor alleles are shown in bold.
  4. dGenotyped in HapMap Release #21a HapMap (Jan 2007).
  5. eTwelve-nt insert polymorphism: TTTGGGGCAGCT, minor allele is lack of the insert.
  6. fNucleotide position with reference to mRNA GenBank acc. NM_005588, which lacks the 12-nt insert.
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