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UniProtKB/Swiss-Prot P02461: Variant p.Gly183Cys

Collagen alpha-1(III) chain
Gene: COL3A1
Variant information

Variant position:  183
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 Glycine (G) to Cysteine (C) at position 183 (G183C, p.Gly183Cys).
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

Involvement in disease:  Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]: A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269|PubMed:10706896, ECO:0000269|PubMed:10923041, ECO:0000269|PubMed:11168790, ECO:0000269|PubMed:12694234, ECO:0000269|PubMed:12786757, ECO:0000269|PubMed:1352273, ECO:0000269|PubMed:1357232, ECO:0000269|PubMed:1370809, ECO:0000269|PubMed:1496983, ECO:0000269|PubMed:1895316, ECO:0000269|PubMed:2243125, ECO:0000269|PubMed:2349939, ECO:0000269|PubMed:2492273, ECO:0000269|PubMed:2808425, ECO:0000269|PubMed:7749417, ECO:0000269|PubMed:7833919, ECO:0000269|PubMed:7912131, ECO:0000269|PubMed:8019562, ECO:0000269|PubMed:8098182, ECO:0000269|PubMed:8411057, ECO:0000269|PubMed:8514866, ECO:0000269|PubMed:8664902, ECO:0000269|PubMed:8680408, ECO:0000269|PubMed:8884076, ECO:0000269|PubMed:8990011, ECO:0000269|PubMed:9036918, ECO:0000269|PubMed:9147870, ECO:0000269|PubMed:9452103, ECO:0000269|Ref.50, ECO:0000269|Ref.55}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In EDSVASC.
Any additional useful information about the variant.

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



Sequence information

Variant position:  183
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1466
The length of the canonical sequence.

Location on the sequence:   GVAVGGLAGYPGPAGPPGPP  G PPGTSGHPGSPGSPGYQGPP
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                         GVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPP

Mouse                         GV--GGMGGYPGPAGPPGPPGPPGSSGHPGSPGSPGYQGPP

Rat                           GV--GGMGGYPGPAGPPGPPGPPGSSGHPGSPGSPGYQGPP

Bovine                        GVAGGGIAGYPGPAGPPGPPGPPGTSGHPGAPGAPGYQGPP

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 154 – 1221 Collagen alpha-1(III) chain
Region 168 – 1196 Triple-helical region
Modified residue 173 – 173 4-hydroxyproline
Modified residue 179 – 179 4-hydroxyproline
Modified residue 182 – 182 4-hydroxyproline
Modified residue 185 – 185 4-hydroxyproline
Modified residue 191 – 191 4-hydroxyproline
Modified residue 194 – 194 4-hydroxyproline
Modified residue 197 – 197 4-hydroxyproline
Modified residue 203 – 203 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.