Variant position: 2006 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2944 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 EQGPPGKEGPIGFPGERGLK GDRGDPGPQGPPGLALGERGP
Mouse DRGPPGKEGLIGFPGERGLK GERGDPGPQGPPGLALGERGP
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
17 – 2944 Collagen alpha-1(VII) chain
1254 – 2784 Triple-helical region
Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
Hammami-Hauasli N.; Schumann H.; Raghunath M.; Kilgus O.; Luethi U.; Luger T.; Bruckner-Tuderman L.;
J. Biol. Chem. 273:19228-19234(1998)
Cited for: VARIANTS DDEB ASP-1519; ASP-2006; GLU-2015 AND ARG-2034;
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
Mecklenbeck S.; Hammami-Hauasli N.; Hoepfner B.; Schumann H.; Kramer A.; Kuester W.; Bruckner-Tuderman L.;
J. Invest. Dermatol. 112:398-400(1999)
Cited for: VARIANTS DDEB ASP-2006; GLU-2015; ARG-2034; TRP-2034; ARG-2043 AND TRP-2043; VARIANTS RDEB CYS-2008; GLY-2008 AND ARG-2009;
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.