|?|| (A;A) (A;G) (G;G) ||28|
|| AFFECT FUNCTION
| Disease Association
|| Of special interest are three different variants that replace arginine codons at positions 206, 650 and 920 in the triple-helical domain with codons for cysteine, an amino acid not normally found in the triple-helical domain of type II collagen from any species. They are of special interest, because they are the only amino acid substitutions in the triple-helical domain that replaces a Y-position amino acid and cause a disease phenotype. Also, they are recurrent in that they have been found in more than one unrelated individual.
[PMID 17697348] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
[PMID 18523590] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.
[PMID 19430638] Host genetic and epigenetic factors in toxoplasmosis.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 28476574] Association of gene variants of transcription factors PPARγ, RUNX2, Osterix genes and COL2A1, IGFBP3 genes with the development of osteonecrosis of the femoral head in Chinese population.