Variant position: 2056 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3177 The length of the canonical sequence.
Location on the sequence:
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 CSGQRGDRGPIGSIGPKGIP GEDGYRGYPGDEGGPGERGPP
Chicken CSGQRGDRGLPGPIGPKGAT GEIGYGGYPGDEGGPGERGPP
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.
Type Positions Description
26 – 3177 Collagen alpha-3(VI) chain
2038 – 2097 Collagen-like 1
2039 – 2375 Triple-helical region
1444 – 3177 Missing. In isoform 3 and isoform 5.
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
Pepe G.; Bertini E.; Giusti B.; Brunelli T.; Comeglio P.; Saitta B.; Merlini L.; Chu M.L.; Federici G.; Abbate R.;
Neuromuscul. Disord. 9:264-271(1999)
Cited for: VARIANT BTHLM1 ARG-2056;
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.