Variant position: 1082 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 KSGDRGETGPAGPTGPVGPV GARGPAGPQGPRGDKGETGEQ
Mouse KNGDRGETGPAGPAGPIGPA GARGPAGPQGPRGDKGETGEQ
Rat KNGDRGETGPAGPAGPIGPA GARGPAGPQGPRGDKGETGEQ
Bovine KSGDRGETGPAGPAGPIGPV GARGPAGPQGPRGDKGETGEQ
Chicken KNGDRGETGPAGPAGPPGPA GARGPAGPQGPRGDKGETGEQ
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.
A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
Constantinou C.D.; Nielsen K.B.; Prockop D.J.;
J. Clin. Invest. 83:574-584(1989)
Cited for: VARIANT OI2 CYS-1082;
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