Sequence information
Variant position: 676 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:
EKGEPGLRGEIGNPGRDGAR
G APGAVGAPGPAGATGDRGEA
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 EKGEPGLRGEIGNPGRDGARG APGAVGAPGPAGATGDRGEA
EKGETGLRGEIGNPGRDGARG APGAMGAPGPAGATGDRGEA
Mouse EKGETGLRGDTGNTGRDGARG IPGAVGAPGPAGASGDRGEA
Rat EKGETGLRGEIGNPGRDGARG APGAIGAPGPAGASGDRGEA
Bovine EKGETGLRGDIGSPGRDGARG APGAIGAPGPAGANGDRGEA
Chicken EKGAPGLRGDTGATGRDGARG LPGAIGAPGPAGGAGDRGEG
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
Chain
80 – 1119
Collagen alpha-2(I) chain
Literature citations
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 [MRNA] OF 663-746; VARIANT OI3 VAL-676;
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
Bateman J.F.; Hannagan M.; Chan D.; Cole W.G.;
Biochem. J. 276:765-770(1991)
Cited for: VARIANT OI4 VAL-676;
Disclaimer:
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.