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UniProtKB/Swiss-Prot P02452: Variant p.Gly593Cys

Collagen alpha-1(I) chain
Gene: COL1A1
Variant information

Variant position:  593
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glycine (G) to Cysteine (C) at position 593 (G593C, p.Gly593Cys).
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 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:  In OI3 and OI4.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  593
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:   ARGQAGVMGFPGPKGAAGEP  G KAGERGVPGPPGAVGPAGKD
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                         ARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKD

                              ARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKD

Mouse                         ARGQAGVMGFPGPKGTAGEPGKAGERGLPGPPGAVGPAGKD

Rat                           ARGQAGVMGFPGPKGTAGEPGKAGERGVPGPPGAVGPAGKD

Bovine                        ARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKD

Chicken                       ARGQAGVMGFPGPKGAAGEPGKPGERGAPGPPGAVGAAGKD

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 583 – 583 4-hydroxyproline
Modified residue 592 – 592 4-hydroxyproline
Modified residue 601 – 601 4-hydroxyproline
Modified residue 604 – 604 4-hydroxyproline


Literature citations

Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
Nicholls A.C.; Oliver J.E.; Renouf D.V.; Keston M.; Pope F.M.;
J. Med. Genet. 28:757-764(1991)
Cited for: VARIANT OI3 CYS-593; VARIANT OI4 CYS-593;

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.