Variant position: 2063 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 GLPGRAGGVGEAGRPGERGE RGEKGERGEQGRDGPPGLPGT
Mouse GLPGRAGGSGEAGRPGERGE RGEKGERGDQGRD---GLPGL
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.
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A.; Rochat A.; Bodemer C.; Petit E.; Rivers C.A.; Prost C.; Fraitag S.; Christiano A.M.; Uitto J.; Lathrop M.; Barrandon Y.; de Prost Y.;
Am. J. Hum. Genet. 61:599-610(1997)
Cited for: VARIANTS RDEB TRP-1982; GLY-2008; ALA-2025; GLU-2049; TRP-2063 AND ARG-2575;
Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
Hashimoto I.; Kon A.; Tamai K.; Uitto J.;
Exp. Dermatol. 8:140-142(1999)
Cited for: VARIANTS DDEB/RDEB TRP-2063 AND SER-2366; VARIANT DDEB GLU-2079;
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
Jerabkova B.; Kopeckova L.; Buckova H.; Vesely K.; Valickova J.; Fajkusova L.;
J. Dermatol. Sci. 59:136-140(2010)
Cited for: VARIANTS RDEB ARG-1845; ARG-1981; GLU-2049; TRP-2063; CYS-2069; GLU-2296; ARG-2557 AND TRP-2622; VARIANTS DDEB ARG-2003; ASP-2040; ARG-2043; ARG-2064; ARG-2070 AND ASP-2076;
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.