Table 1 of Mao, Mol Vis 2011; 17:894-902.

Table 1. Summary of disease-associated LRP5 polymorphisms.

cDNA change* Protein change Associated diseases/phenotype Effect on Wnt signaling Biochemical phenotype References
c266A>G Q89R FEVR; LBM; spinal osteoarthritis Unknown Unknown [20,32]
c331G>T D111Y HBM Increase Decreases Dkk1 and SOST inhibition [26, 30]
c461G>T R154M HBM Increase Decreases SOST inhibition [26]
c511G>C G171R HBM Increase Decreases Dkk1 and SOST inhibition [30]
c512G>T G171V HBM Increase Decreases MESD binding; decreased cell surface presentation; decreased SOST inhibition/binding [26,28]
c593A>G N198S HBM Increase Decreases SOST inhibition [26]
c640G>A A214T HBM Increase Decreases Dkk1 and SOST inhibition/binding [26,30]
c724G>A A242T HBM Increase Decreases Dkk1 and SOST inhibition/binding [30]
c758C>T T253I HBM Increase Decreases Dkk1 and SOST inhibition/binding [26,30]
c844A>G M282V HBM Increase Decreases Dkk1 and SOST inhibition/binding [30]
c1330C>T R444C FEVR Decrease Inhibits Norrin-FZD4 mediated pathway activation [20]
c1481G>A R494Q OPPG Decrease Increases Dkk1 inhibition [8,22]
c1564G>A A522T FEVR Decrease Inhibits norrin-FZD4 mediated pathway activation [20]
c1708C>T R570W OPPG Decrease Increases Dkk1 inhibition [8,22]
c3989C>T A1330V FEVR Decrease Inhibits norrin-FZD4 mediated pathway activation [20]
c4574T>C# V1525A# BMD# Decrease Unknown [34]
c4619C>T T1540M FEVR Decrease Inhibits norrin-FZD4 mediated pathway activation [20]
c4643G>T C1548F FEVR Decrease Inhibits norrin-FZD4 mediated pathway activation [20]

*The number starts from the first nucleotide of the coding region. #The predominant allele is controversial [34]. The SNP database recorded c4574C (1525A) as the predominant type. However, c4574C (1525A) is less capable of signal transduction compared to c4574T (1525V). HBM: high bone mineral density; LBM: low bone mineral density; OPPG: Osteoporosis-pseudoglioma syndrome.

Mao, Mol Vis 2011; 17:894-902. http://www.molvis.org/molvis/v17/a100

©2011 Molecular Vision http://www.molvis.org/molvis/

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