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Table 2 Genetic findings of 9 OI probands with mutations in COL1A2

From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Family No. Type of OI Exon or Intron Nucleotide change (DNA level) Predicted amino acid change (protein level) Mutation type Helical mutation or haploinsufficiency Novel mutation Familial/Sporadic
F29 I Exon 8 c.335G > A p. Gly112Asp Missense Helical Yes F
F30 IV Exon 24 c.1378G > A p. Gly460Ser Missense Helical   S
F31 IV Exon 29 c.1666G > T p. Gly556Cys Missense Helical Yes S
F32 IV Exon 33 c.2018G > A p. Gly673Asp Missense Helical   S
F33 I Exon 37 c.2197G > T p. Gly733Cys Missense Helical   F
F34 IV Exon 37 c.2279G > A p. Gly760Glu Missense Helical   F
F35 III Exon 37 c.2288G > A p. Gly763Asp Missense Helical   S
F36 I Exon 40 c.2531G > A p. Gly844Asp Missense Helical Yes F
F37 IV Exon 51 c.3815G > C p. Cys1272Ser Missense - Yes S
  1. OI osteogenesis imperfecta