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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12109: Variant p.Gly341Val

Collagen alpha-1(VI) chain
Gene: COL6A1
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Variant information Variant position: help 341 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 Valine (V) at position 341 (G341V, p.Gly341Val). 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 medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In BTHLM1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 341 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 EKGKRGIDGVDGVKGEMGYP G LPGCKGSPGFDGIQGPPGPK 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                         EKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGPK

Mouse                         EKGKRGIDGVDGMKGETGYPGLPGCKGSPGFDGIQGPPGPK

Chicken                       EKGKRGIDGIDGMKGEAGYPGLPGCKGSPGFDGTQGPPGPK

Xenopus laevis                DKGKRGIDGVDGQKGEDGYNGLPGCKGSPGFDGAPGSSGPK
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
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 BTHLM1A LEU-274; ARG-290; VAL-341 AND THR-571; VARIANTS UCMD1A ARG-281 AND ARG-284; VARIANTS ASN-116; HIS-850; MET-881 AND LEU-890; 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 BTHLM1A 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.