Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.
Symoens
S
S
Centre for Medical Genetics, University Hospital Ghent, B-9000 Ghent, Belgium.
Nuytinck
L
L
Legius
E
E
Malfait
F
F
Coucke
P J
PJ
De Paepe
A
A
D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002648:Child; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D017124:Conserved Sequence / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D008715:Methionine / Q000235:genetics*; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010446:Peptide Fragments / Q000235:genetics*; D010641:Phenotype; D011347:Procollagen / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D012867:Skin / Q000473:pathology; D014633:Valine / Q000235:genetics*
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D010446:Peptide Fragments; D011347:Procollagen; D011498:Protein Precursors; D012333:RNA, Messenger; C042813:procollagen type I carboxy terminal peptide; D003094:Collagen; D008715:Methionine; D014633:Valine