Variant position: 1012 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1366 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 AVGPRGPSGPQGIRGDKGEP GEKGPRGLPGLKGHNGLQGLP
Mouse AVGPRGPSGPQGIRGDKGEP GDKGHRGLPGLKGYSGLQGLP
Rat AVGPRGPSGPQGIRGDKGEP GDKGARGLPGLKGHNGLQGLP
Bovine AVGPRGPSGPQGIRGDKGEP GDKGPRGLPGLKGHNGLQGLP
Chicken AFGPRGLAGPQGPRGEKGEP GDKGHRGLPGLKGHNGLQGLP
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.
Type Positions Description
80 – 1119 Collagen alpha-2(I) chain
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
Marini J.C.; Lewis M.B.; Wang Q.; Chen K.J.; Orrison B.M.;
J. Biol. Chem. 268:2667-2673(1993)
Cited for: VARIANT OI4 SER-1012;
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 GLU-325; SER-328; SER-358; SER-601; ASP-676; SER-820; ARG-856; SER-1012; PRO-PRO-GLY-811 INS; VAL-GLY-PRO-989 INS AND 1094-PRO--GLY-1096 DEL;
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.