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UniProtKB/Swiss-Prot P08123: Variant p.Gly247Arg

Collagen alpha-2(I) chain
Gene: COL1A2
Chromosomal location: 7q22.1
Variant information

Variant position:  247
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 247 (G247R, p.Gly247Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. {ECO:0000269|PubMed:16705691, ECO:0000269|PubMed:16786509, ECO:0000269|PubMed:1990009, ECO:0000269|PubMed:8456807, ECO:0000269|PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In OI1.
Any additional useful information about the variant.



Sequence information

Variant position:  247
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:   APGPAGARGSDGSVGPVGPA  G PIGSAGPPGFPGAPGPKGEI
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                         APGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEI

                              APGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEI

Mouse                         APGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEL

Rat                           APGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEL

Bovine                        APGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEL

Chicken                       APGPAGARGSDGSAGPTGPAGPIGAAGPPGFPGAPGAKGEI

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.

TypePositionsDescription
Chain 80 – 1119 Collagen alpha-2(I) chain


Literature citations

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;

Disclaimer: 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.