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