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UniProtKB/Swiss-Prot P12109: Variant p.Gly284Arg

Collagen alpha-1(VI) chain
Gene: COL6A1
Variant information

Variant position:  284
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 Arginine (R) at position 284 (G284R, p.Gly284Arg).
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 large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:16130093, ECO:0000269|PubMed:17785674}. 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 UCMD1; fibroblasts with the mutation assembled and secreted normal collagen VI microfibrils; cell adhesion of heterozygous Arg-284 fibroblasts is markedly decreased but can be rescued by the addition of normal collagen VI.
Any additional useful information about the variant.

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



Sequence information

Variant position:  284
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1028
The length of the canonical sequence.

Location on the sequence:   DPGFEGERGKPGLPGEKGEA  G DPGRPGDLGPVGYQGMKGEK
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                         DPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEK

Mouse                         DPGYEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEK

Chicken                       DPGHEGERGKPGLPGQKGDAGDPGRPGDMGPVGYQGMKGDK

Xenopus laevis                PPGYEGEIGKPGLPGDRGLPGDPGRQGDIGPVGYQGMKGDQ

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 20 – 1028 Collagen alpha-1(VI) chain
Region 257 – 592 Triple-helical region


Literature citations

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Giusti B.; Lucarini L.; Pietroni V.; Lucioli S.; Bandinelli B.; Sabatelli P.; Squarzoni S.; Petrini S.; Gartioux C.; Talim B.; Roelens F.; Merlini L.; Topaloglu H.; Bertini E.; Guicheney P.; Pepe G.;
Ann. Neurol. 58:400-410(2005)
Cited for: VARIANTS UCMD1 ARG-284 AND ARG-290; VARIANTS ASN-116 AND LEU-890;

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe A.K.; Dunn D.M.; von Niederhausern A.C.; Hamil C.; Aoyagi A.; Laval S.H.; Marie S.K.; Chu M.-L.; Swoboda K.; Muntoni F.; Bonnemann C.G.; Flanigan K.M.; Bushby K.M.D.; Weiss R.B.;
J. Med. Genet. 42:108-120(2005)
Cited for: VARIANTS BTHLM1 ASN-116; LEU-274; ARG-290; VAL-341 AND THR-571; VARIANTS UCMD1 ARG-281 AND ARG-284; VARIANTS HIS-850; MET-881 AND LEU-890;

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
Kawahara G.; Okada M.; Morone N.; Ibarra C.A.; Nonaka I.; Noguchi S.; Hayashi Y.K.; Nishino I.;
Neurology 69:1043-1049(2007)
Cited for: CHARACTERIZATION OF VARIANT UCMD1 ARG-284;

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.