Variant position: 1195 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 GPVGPPGPPGPPGPPGPPSA GFDFSFLPQPPQEKAHDGGRY
Mouse GPAGPPGPPGPPGPPGPPSG GYDFSFLPQPPQEKSQDGGRY
Rat GPAGPPGPPGPPGPPGPPSG GYDFSFLPQPPQEKSQDGGRY
Bovine GPAGPPGPPGPPGPPGPPSG GYDLSFLPQPPQEKAHDGGRY
Chicken GPVGPPGPPGPPGPPGPPSG GFDLSFLPQPPQEKAHDGGRY
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.
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
Cohn D.H.; Apone S.; Eyre D.R.; Starman B.J.; Andreassen P.; Charbonneau H.; Nicholls A.C.; Pope F.M.; Byers P.H.;
J. Biol. Chem. 263:14605-14607(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1187-1220; VARIANT CYS-1195;
A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.
Labhard M.E.; Wirtz M.K.; Pope F.M.; Nicholls A.C.; Hollister D.W.;
Mol. Biol. Med. 5:197-207(1988)
Cited for: VARIANT OI1 CYS-1195;
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