rs111033553
This is a variant in the COL10A1 gene that changes a glycine to an glutamate.
▶ClinVar annotation
Metaphyseal chondrodysplasia, Schmid type (MCDS)
View on ClinVar →▶Research that mentions this SNP (1)
▶Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasiasFunctionalBonaventure J. et al.(1995)· Human Genetics
Six additional COL10A1 mutations were identified in eight patients with Schmid metaphyseal dysplasia (SMCD), all located in the carboxy-terminal NC1 domain. Mutations included Gly595Glu, Asn617Lys, Tyr597His, Leu644Arg, Asp648Gly, and a delT1908 deletion. Mutations cluster in three functionally distinct subdomains: an aromatic-rich region (residues 589-601), an N-linked oligosaccharide attachment site (residues 614-626), and a hydrophilic region (residues 643-650). All mutations are specific to the SMCD phenotype and likely prevent proper collagen X trimerization.
About COL10A1
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
View all COL10A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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