Variant position: 1076 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 PVGPAGKSGDRGETGPAGPT GPVGPVGARGPAGPQGPRGDK
Mouse PVGPAGKNGDRGETGPAGPA GPIGPAGARGPAGPQGPRGDK
Rat PVGPAGKNGDRGETGPAGPA GPIGPAGARGPAGPQGPRGDK
Bovine PVGPAGKSGDRGETGPAGPA GPIGPVGARGPAGPQGPRGDK
Chicken PVGPAGKNGDRGETGPAGPA GPPGPAGARGPAGPQGPRGDK
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;
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