Variant position: 1040 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 AEGSPGRDGSPGAKGDRGET GPAGPPGAPGAPGAPGPVGPA
Mouse AEGSPGRDGAPGAKGDRGET GPAGPPGAPGAPGAPGPVGPA
Rat AEGSPGRDGAPGAKGDRGET GPAGPPGAPGAPGAPGPVGPA
Bovine AEGSPGRDGSPGAKGDRGET GPAGPPGAPGAPGAPGPVGPA
Chicken AEGAPGRDGAAGPKGDRGET GPAGPPGAPGAPGAPGPVGPA
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.
Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
Lund A.M.; Skovby F.; Schwartz M.;
Hum. Mutat. 9:378-382(1997)
Cited for: VARIANTS OI3 SER-821; SER-1040; SER-1049; SER-1058 AND SER-1076;
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.
Witecka J.; Augusciak-Duma A.M.; Kruczek A.; Szydlo A.; Lesiak M.; Krzak M.; Pietrzyk J.J.; Mannikko M.; Sieron A.L.;
J. Appl. Genet. 49:283-295(2008)
Cited for: VARIANTS OI1 VAL-200 AND PHE-349; VARIANT OI2 SER-866; VARIANT OI3 SER-1040;
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.