Variant position: 704 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ERGVQGPPGPAGPRGANGAP GNDGAKGDAGAPGAPGSQGAP
Mouse ERGVQGPPGPAGPRGNNGAP GNDGAKGDTGAPGAPGSQGAP
Rat ERGVQGPPGPAGPRGNNGAP GNDGAKGDTGAPGAPGSQGAP
Bovine ERGVQGPPGPAGPRGANGAP GNDGAKGDAGAPGAPGSQGAP
Chicken ERGVQGPPGPQGPRGANGAP GNDGAKGDAGAPGAPGNEGPP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
162 – 1218 Collagen alpha-1(I) chain
179 – 1192 Triple-helical region
691 – 691 4-hydroxyproline
703 – 703 4-hydroxyproline
715 – 715 4-hydroxyproline
718 – 718 4-hydroxyproline
724 – 724 4-hydroxyproline
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
Starman B.J.; Eyre D.R.; Charbonneau H.; Harrylock M.; Weis M.A.; Weiss L.; Graham J.M. Jr.; Byers P.H.;
J. Clin. Invest. 84:1206-1214(1989)
Cited for: VARIANT OI1 CYS-272; VARIANT OI3 CYS-704; VARIANT OI2 CYS-896;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.