Variant position: 790 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 PPGPAGSRGDGGPPGMTGFP GAAGRTGPPGPSGISGPPGPP
Mouse PPGPVGSRGDGGPPGMTGFP GAAGRTGPPGPSGIAGPPGPP
Rat PPGPAGSRGDGGPPGMTGFP GAAGRTGPPGPSGITGPPGPP
Bovine PPGPAGSRGDGGPPGATGFP GAAGRTGPPGPSGISGPPGPP
Chicken AAGPAGPRGDAGPPGMTGFP GAAGRVGPPGPAGITGPPGPP
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
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
Cohen-Solal L.; Zylberberg L.; Sangalli A.; Gomez Lira M.; Mottes M.;
J. Biol. Chem. 269:14751-14758(1994)
Cited for: VARIANT OI2 ASP-790;
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian D.L.; Chan T.F.; Poon A.; Schwarze U.; Yang K.; Byers P.H.; Kwok P.Y.; Klein T.E.;
Hum. Mol. Genet. 18:463-471(2009)
Cited for: VARIANTS OI2 CYS-234; ARG-283; GLU-397; CYS-454; LEU-457; 461-PRO--GLY-466 DEL; GLU-526; VAL-562; 705-ALA--PRO-707 DEL; ARG-739; VAL-748; ASP-790; PRO-798 INS; 806-PRO--GLY-811 DEL; VAL-856; SER-949; ASP-955; GLU-1027 AND 1058-PRO--ALA-1062 DEL; VARIANT ALA-549;
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.