Sequence analysis of aggrecan complementary DNA from an affected individual revealed homozygosity for a missense mutation ( c.6799G -- > A ) that predicts a p.D2267N amino acid substitution in the C-type lectin domain within the G3 domain of aggrecan .
O O O B-GeneOrGeneProduct O O O O O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O B-SequenceVariant O O O O O O O O O O O O O B-GeneOrGeneProduct O