Variant position: 767 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 DAGPKGADGSPGKDGVRGLT GPIGPPGPAGAPGDKGESGPS
Mouse DAGPKGADGSPGKDGARGLT GPIGPPGPAGAPGDKGEAGPS
Rat DAGPKGADGSPGKDGVRGLT GPIGPPGPAGAPGDKGETGPS
Bovine DAGPKGADGAPGKDGVRGLT GPIGPPGPAGAPGDKGEAGPS
Chicken DPGPKGADGAPGKDGLRGLT GPIGPPGPAGAPGDKGEAGPP
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.
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
Forlino A.; Zolezzi F.; Valli M.; Pignatti P.F.; Cetta G.; Brunelli P.C.; Mottes M.;
Hum. Mol. Genet. 3:2201-2206(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 746-781; VARIANT OI3 SER-767;
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee K.S.; Song H.R.; Cho T.J.; Kim H.J.; Lee T.M.; Jin H.S.; Park H.Y.; Kang S.; Jung S.C.; Koo S.K.;
Hum. Mutat. 27:599-599(2006)
Cited for: VARIANTS OI1/OI3/OI4 ARG-194; ASP-242; ARG-257; SER-722; SER-767; SER-821 AND SER-1058;
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