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UniProtKB/Swiss-Prot P12109: Variant p.Gly275Arg

Collagen alpha-1(VI) chain
Gene: COL6A1
Chromosomal location: 21q22.3
Variant information

Variant position:  275
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 275 (G275R, p.Gly275Arg).
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:  Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269|PubMed:11865138, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:15955946, ECO:0000269|PubMed:8782832}. 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 BTHLM1.
Any additional useful information about the variant.



Sequence information

Variant position:  275
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:   ARGPPGLRGDPGFEGERGKP  G LPGEKGEAGDPGRPGDLGPV
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                         ARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPV

Mouse                         ARGPPGPRGDPGYEGERGKPGLPGEKGEAGDPGRPGDLGPV

Chicken                       PRGPPGPPGDPGHEGERGKPGLPGQKGDAGDPGRPGDMGPV

Xenopus laevis                SRGLSGPSGPPGYEGEIGKPGLPGDRGLPGDPGRQGDIGPV

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

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Lucioli S.; Giusti B.; Mercuri E.; Vanegas O.C.; Lucarini L.; Pietroni V.; Urtizberea A.; Ben Yaou R.; de Visser M.; van der Kooi A.J.; Boennemann C.; Iannaccone S.T.; Merlini L.; Bushby K.; Muntoni F.; Bertini E.; Chu M.-L.; Pepe G.;
Neurology 64:1931-1937(2005)
Cited for: VARIANTS BTHLM1 ASP-272; ARG-275; ARG-290 AND VAL-341;

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.