Sequence information
Variant position: 356 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:
PTGPAGPPGFPGAVGAKGEA
G PQGPRGSEGPQGVRGEPGPP
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 PTGPAGPPGFPGAVGAKGEAG PQGPRGSEGPQGVRGEPGPP
PTGPAGPPGFPGAVGAKGEAG PQGARGSEGPQGVRGEPGPP
Mouse PTGPTGPPGFPGAVGAKGEAG PQGARGSEGPQGVRGEPGPP
Rat PTGPTGPPGFPGAAGAKGEAG PQGARGSEGPQGVRGEPGPP
Bovine PTGPAGPPGFPGAVGAKGEGG PQGPRGSEGPQGVRGEPGPP
Chicken PTGPAGPPGFPGAAGAKGETG PQGARGSEGPQGSRGEPGPP
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
Chain
162 – 1218
Collagen alpha-1(I) chain
Region
179 – 1192
Triple-helical region
Modified residue
343 – 343
4-hydroxyproline
Modified residue
346 – 346
4-hydroxyproline
Modified residue
373 – 373
4-hydroxyproline
Modified residue
376 – 376
4-hydroxyproline
Literature citations
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
Valli M.; Mottes M.; Tenni R.; Sangalli A.; Gomez Lira M.; Rossi A.; Antoniazzi F.; Cetta G.; Pignatti P.F.;
J. Biol. Chem. 266:1872-1878(1991)
Cited for: VARIANT OI4 CYS-356;
Disclaimer:
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.