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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12109: Variant p.Gly284Arg

Collagen alpha-1(VI) chain
Gene: COL6A1
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Variant information Variant position: help 284 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 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: 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 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1028 The length of the canonical sequence.
Location on the sequence: help 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: help 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: 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 20 – 1028 Collagen alpha-1(VI) chain
Region 254 – 590 Disordered
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 LEU-274; ARG-290; VAL-341 AND THR-571; VARIANTS UCMD1 ARG-281 AND ARG-284; VARIANTS ASN-116; 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.