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Table 1 Common variants of MBL2 genotyped in the Urban Health Study

From: MBL2and Hepatitis C Virus Infection among Injection Drug Users

Variant

dbSNP Identifier

Secretor*

Amino Acid Change

Function

T-1964C

rs1031101

   

G-618C

rs11003125

H/L (aka -550)

 

H = high, L = low

G-289C

rs7096206

Y/X (aka -221)

 

Y = high, X = low

T-65C

rs7095891

Q/P (aka +4)

  

Ex1 C-34T

rs5030737

A/D (Codon 52)

R52C

D = low

Ex1 G-27A

rs1800450

A/B (Codon 54)

G54D

B = low

Ex1 G-18A

rs1800451

A/C (Codon 57)

G57E

C = low

IVS2 G-630A

rs4935046

   

IVS2 T-250C

rs1838066

   

IVS3 G-28C

rs930508

   

Ex4 C+5G

rs930507

   

Ex4 T-1483C

rs10082466

   

Ex4 G-1067A

rs10824792

   

Ex4 G-901A

rs2120132

   

Ex4 G-710A

rs2099902

   
  1. NOTE: Six common variants form secretor haplotypes including -618, -289, -65, Ex1 -34, Ex1 -27, Ex1 – 18. Nomenclature for description of sequence variations is described in http://snp500cancer.nci.nih.gov/terms_snp_region.cfm