Variant position: 2028 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 RGDPGPQGPPGLALGERGPP GPSGLAGEPGKPGIPGLPGRA
Mouse RGDPGPQGPPGLALGERGPP GPPGLAGEPGKPGIPGLPGRA
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 de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Lee J.Y.-Y.; Li C.; Chao S.-C.; Pulkkinen L.; Uitto J.;
Arch. Dermatol. Res. 292:159-163(2000)
Cited for: VARIANT DDEB ARG-2028;
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.
Murata T.; Masunaga T.; Shimizu H.; Takizawa Y.; Ishiko A.; Hatta N.; Nishikawa T.;
Arch. Dermatol. Res. 292:477-481(2000)
Cited for: VARIANT DDEB ALA-2028; VARIANT EBP ARG-2028;
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