Variant position: 980 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 VVGLPGQRGERGFPGLPGPS GEPGKQGPSGASGERGPPGPM
Mouse VVGLPGQRGERGFPGLPGPS GEPGKQGPSGSSGERGPPGPM
Rat VVGLPGQRGERGFPGLPGPS GEPGKQGPSGASGERGPPGPM
Bovine VVGLPGQRGERGFPGLPGPS GEPGKQGPSGASGERGPPGPM
Chicken VVGLPGQRGERGFPGLPGPS GEPGKQGPSGASGERGPPGPM
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
964 – 964 4-hydroxyproline
973 – 973 4-hydroxyproline
976 – 976 4-hydroxyproline
982 – 982 4-hydroxyproline
997 – 997 4-hydroxyproline
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.
Bonaventure J.; Cohen-Solal L.; Lasselin C.; Maroteaux P.;
Hum. Genet. 89:640-646(1992)
Cited for: VARIANT OI2 VAL-980;
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