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UniProtKB/Swiss-Prot P02452: Variant p.Gly906Ser

Collagen alpha-1(I) chain
Gene: COL1A1
Chromosomal location: 17q21.3-q22
Variant information

Variant position:  906
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Serine (S) at position 906 (G906S, p.Gly906Ser).
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 small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Variant description:  Found in a patient with mild osteogenesis imperfecta; uncertain pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  906
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:   PGPSGNAGPPGPPGPAGKEG  G KGPRGETGPAGRPGEVGPPG
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                         PGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPGEVGPPG

                              PGPSGNAGPPGPPGPAGKEGGKGARGETGPAGRPGEVGPPG

Mouse                         PGPSGNAGPPGPPGPVGKEGGKGPRGETGPAGRPGEVGPPG

Rat                           PGPSGNAGPPGPPGPVGKEGGKGPRGETGPAGRPGEVGPPG

Bovine                        PGPSGNAGPPGPPGPAGKEGSKGPRGETGPAGRPGEVGPPG

Chicken                       PGPSGNIGLPGPPGPAGKZGSKGPRGETGPAGRPGEPGPAG

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 162 – 1218 Collagen alpha-1(I) chain
Region 179 – 1192 Triple-helical region
Modified residue 886 – 886 4-hydroxyproline
Modified residue 895 – 895 4-hydroxyproline
Modified residue 898 – 898 4-hydroxyproline
Modified residue 919 – 919 4-hydroxyproline


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 OI2 ARG-22; ARG-581; VAL-734 AND ASN-1413; VARIANTS OI4 ARG-197 AND CYS-338; VARIANTS OI1 VAL-320; ARG-555; SER-647 AND GLU-1219; VARIANTS ALA-205; LYS-288; SER-906 AND HIS-1356;

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.