Variant position: 210 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 QLNLMDLVSGIPATQSQKIQ EVGEITNLRVNFTRLAPVPQR
Mouse QLNLMDLASAIPASQSKKIQ ELGDITNLRVNFTKLAPVPQR
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
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
Mellerio J.E.; Eady R.A.J.; Atherton D.J.; Lake B.D.; McGrath J.A.;
Br. J. Dermatol. 139:325-331(1998)
Cited for: VARIANT GABEB LYS-210;
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;
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.