Variant position: 2575 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 DNGDPGDKGSKGEPGDKGSA GLPGLRGLLGPQGQPGAAGIP
Mouse ESGNPGDKGSKGEPGDKGSA GSIGVRGLTGPKGEPGAAGIP
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.
Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
Shimizu H.; McGrath J.A.; Christiano A.M.; Nishikawa T.; Uitto J.;
J. Invest. Dermatol. 106:119-124(1996)
Cited for: VARIANT RDEB ARG-2575;
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;
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