Variant position: 253 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 ARGSDGSVGPVGPAGPIGSA GPPGFPGAPGPKGEIGAVGNA
Mouse ARGSDGSVGPVGPAGPIGSA GPPGFPGAPGPKGELGPVGNP
Rat ARGSDGSVGPVGPAGPIGSA GPPGFPGAPGPKGELGPVGNP
Bovine ARGSDGSVGPVGPAGPIGSA GPPGFPGAPGPKGELGPVGNP
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 – 1102 Collagen alpha-2(I) chain
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R.; McMahon R.; Nunn J.; Bamford R.; Afifi A.; Bishop N.; Dalton A.;
Hum. Mutat. 27:716-716(2006)
Cited for: VARIANTS OI4 ARG-202 AND VAL-256; VARIANTS OI1 ARG-247; ARG-319; CYS-733 AND TYR-1195; VARIANTS OI2 ASP-253; ASP-982 AND ASP-1003; VARIANT OI3 ASP-1087;
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.