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 |