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UniProtKB/Swiss-Prot P02452: Variant p.Arg1066Cys

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

Variant position:  1066
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 Arginine (R) to Cysteine (C) at position 1066 (R1066C, p.Arg1066Cys).
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 large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  Probable disease-associated mutation found in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; affects dimer formation, helix stability and organization of collagen fibrils.
Any additional useful information about the variant.



Sequence information

Variant position:  1066
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:   GAPGAPGAPGPVGPAGKSGD  R GETGPAGPTGPVGPVGARGP
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                         GAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGPVGARGP

                              GAPGAPGAPGPVGPAGKNGDRGETGPAGPAGPIGPVGARGP

Mouse                         GAPGAPGAPGPVGPAGKNGDRGETGPAGPAGPIGPAGARGP

Rat                           GAPGAPGAPGPVGPAGKNGDRGETGPAGPAGPIGPAGARGP

Bovine                        GAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPIGPVGARGP

Chicken                       GAPGAPGAPGPVGPAGKNGDRGETGPAGPAGPPGPAGARGP

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 1048 – 1048 4-hydroxyproline
Modified residue 1051 – 1051 4-hydroxyproline


Literature citations

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral W.A.; Makareeva E.; Letocha A.D.; Scribanu N.; Fertala A.; Steplewski A.; Keene D.R.; Persikov A.V.; Leikin S.; Marini J.C.;
Hum. Mutat. 28:396-405(2007)
Cited for: VARIANT CYS-1066;

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.