Variant position: 1088 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 ETGPAGPTGPVGPVGARGPA GPQGPRGDKGETGEQGDRGIK
Mouse ETGPAGPAGPIGPAGARGPA GPQGPRGDKGETGEQGDRGIK
Rat ETGPAGPAGPIGPAGARGPA GPQGPRGDKGETGEQGDRGIK
Bovine ETGPAGPAGPIGPVGARGPA GPQGPRGDKGETGEQGDRGIK
Chicken ETGPAGPAGPPGPAGARGPA GPQGPRGDKGETGEQGDRGMK
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
1096 – 1096 5-hydroxylysine
1108 – 1108 5-hydroxylysine; alternate
1108 – 1108 O-linked (Gal...) hydroxylysine; alternate
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
Xia X.Y.; Li W.W.; Li N.; Wu Q.Y.; Cui Y.X.; Li X.J.;
Mol. Med. Report. 9:2187-2190(2014)
Cited for: VARIANT OI1 GLU-1088;
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