Variant position: 207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1172 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 GKVQLNLMDLVSGIPATQSQ KIQEVGEITNLRVNFTRLAPV
Mouse GKVQLNLMDLASAIPASQSK KIQELGDITNLRVNFTKLAPV
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
18 – 1172 Laminin subunit beta-3
22 – 249 Laminin N-terminal
220 – 220 N-linked (GlcNAc...) asparagine
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
Pasmooij A.M.G.; Pas H.H.; Bolling M.C.; Jonkman M.F.;
J. Clin. Invest. 117:1240-1248(2007)
Cited for: VARIANTS GABEB ALA-199; GLN-207 AND LYS-210;
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