Variant position: 263 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 ERGPPGPQGARGLPGTAGLP GMKGHRGFSGLDGAKGDAGPA
Mouse ERGPPGPQGARGLPGTAGLP GMKGHRGFSGLDGAKGDAGPA
Rat ERGPPGPQGARGLPGTAGLP GMKGHRGFSGLDGAKGDTGPA
Bovine ERGPPGPQGARGLPGTAGLP GMKGHRGFSGLDGAKGDAGPA
Chicken QRGPPGPQGARGLPGTAGLP GMKGHRGFSGLDGAKGQPGPA
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
162 – 1218 Collagen alpha-1(I) chain
179 – 1192 Triple-helical region
247 – 247 4-hydroxyproline
256 – 256 4-hydroxyproline
262 – 262 4-hydroxyproline
265 – 265 5-hydroxylysine; alternate
271 – 271 Phosphoserine
265 – 265 O-linked (Gal...) hydroxylysine; alternate
The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.
Deak S.B.; Scholz P.M.; Amenta P.S.; Constantinou C.D.; Levi-Minzi S.A.; Gonzalez-Lavin L.; MacKenzie J.W.;
J. Biol. Chem. 266:21827-21832(1991)
Cited for: VARIANT OI1 ARG-263;
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.