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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02461: Variant p.Gly540Arg

Collagen alpha-1(III) chain
Gene: COL3A1
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Variant information Variant position: help 540 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 Arginine (R) at position 540 (G540R, p.Gly540Arg). 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 large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In EDSVASC. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 540 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1466 The length of the canonical sequence.
Location on the sequence: help AAGEPGRDGVPGGPGMRGMP G SPGGPGSDGKPGPPGSQGES 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                         AAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGES

Mouse                         VAGEPGRDGTPGGPGIRGMPGSPGGPGNDGKPGPPGSQGES

Rat                           VAGEPGRDGTPGGPGIRGMPGSPGGPGNDGKPGPPGSQGES

Bovine                        VAGEPGRNGLPGGPGLRGIPGSPGGPGSNGKPGPPGSQGET
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 154 – 1221 Collagen alpha-1(III) chain
Region 95 – 1194 Disordered
Region 168 – 1196 Triple-helical region
Modified residue 524 – 524 4-hydroxyproline
Modified residue 530 – 530 4-hydroxyproline
Modified residue 533 – 533 4-hydroxyproline
Modified residue 539 – 539 4-hydroxyproline
Modified residue 542 – 542 4-hydroxyproline
Modified residue 545 – 545 4-hydroxyproline
Modified residue 551 – 551 4-hydroxyproline
Modified residue 554 – 554 4-hydroxyproline



Literature citations
Marked heterogeneity in COL3A1 mutations that produce the EDS type IV phenotype.
Goldstein J.A.; Schwarze U.; Witz A.; Byers P.H.;
Cited for: VARIANTS EDSVASC CYS-183; ARG-201; GLU-228; ARG-540; ARG-936; GLU-996; VAL-1071; ALA-1104; GLU-1182; VAL-1185; GLU-1188 AND ARG-1188; Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
Smith L.T.; Schwarze U.; Goldstein J.; Byers P.H.;
J. Invest. Dermatol. 108:241-247(1997)
Cited for: VARIANTS EDSVASC CYS-183; ARG-201; GLU-228; ARG-540 AND ARG-936;
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.