Variant position: 2043 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 ERGPPGPSGLAGEPGKPGIP GLPGRAGGVGEAGRPGERGER
Mouse ERGPPGPPGLAGEPGKPGIP GLPGRAGGSGEAGRPGERGER
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.
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
Christiano A.M.; Morricone A.; Paradisi M.; Angelo C.; Mazzanti C.; Cavalieri R.; Uitto J.;
J. Invest. Dermatol. 104:438-440(1995)
Cited for: VARIANT DDEB ARG-2043;
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
Winberg J.-O.; Hammami-Hauasli N.; Nilssen O.; Anton-Lamprecht I.; Naylor S.L.; Kerbacher K.; Zimmermann M.; Krajci P.; Gedde-Dahl T. Jr.; Bruckner-Tuderman L.;
Hum. Mol. Genet. 6:1125-1135(1997)
Cited for: VARIANT RDEB ARG-2009; VARIANT DDEB ARG-2043;
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Rouan F.; Pulkkinen L.; Jonkman M.F.; Bauer J.W.; Cserhalmi-Friedman P.B.; Christiano A.M.; Uitto J.;
J. Invest. Dermatol. 111:1210-1213(1998)
Cited for: VARIANTS DDEB TRP-2034; VAL-2040; ARG-2043; ARG-2064 AND ASP-2713;
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;
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.