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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02452: Variant p.Gly203Cys

Collagen alpha-1(I) chain
Gene: COL1A1
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Variant information Variant position: help 203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Cysteine (C) at position 203 (G203C, p.Gly203Cys). 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: help 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: help -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: help In OIEDS1. Any additional useful information about the variant.


Sequence information Variant position: help 203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1464 The length of the canonical sequence.
Location on the sequence: help PSGPRGLPGPPGAPGPQGFQ G PPGEPGEPGASGPMGPRGPP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPP

                              PSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPP

Mouse                         PSGPRGLPGPPGAPGPQGFQGPPGEPGEPGGSGPMGPRGPP

Rat                           PSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPP

Bovine                        PSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPP

Chicken                       PAGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPA
Sequence annotation in neighborhood: help 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 98 – 1214 Disordered
Region 179 – 1192 Triple-helical region
Compositional bias 198 – 217 Low complexity
Modified residue 190 – 190 4-hydroxyproline
Modified residue 193 – 193 4-hydroxyproline
Modified residue 196 – 196 4-hydroxyproline
Modified residue 205 – 205 4-hydroxyproline
Modified residue 208 – 208 4-hydroxyproline
Modified residue 211 – 211 4-hydroxyproline



Literature citations
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Malfait F.; Symoens S.; Goemans N.; Gyftodimou Y.; Holmberg E.; Lopez-Gonzalez V.; Mortier G.; Nampoothiri S.; Petersen M.B.; De Paepe A.;
Orphanet J. Rare Dis. 8:78-78(2013)
Cited for: VARIANTS OIEDS1 ASP-188 AND CYS-203; INVOLVEMENT IN OIEDS1; CHARACTERIZATION OF VARIANT OIEDS1 ASP-188;
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.