Variant position: 931 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1822 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 FHDLKVAPGYYTLTADQDAR GMVEFQEGVELVDVRVPLFIR
Mouse FHELKVAPGYYTVTAEQDAR GMVEFQEGVELVDVRVPLFIR
Rat FHELKVAPGYYTLTAEQDAR GMVEFQEGVELVDVRVPLFIR
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
28 – 1822 Integrin beta-4
734 – 1822 Cytoplasmic
851 – 964 LNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLKLTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEA -> VRTQELGLAGDVAERGLQADLRCTQAPADQVPAAAQCREKARPHHCGHSADGAPLGQAGPAEAYREAGGTEGLPRPQGGPRLLHPHCRPGRPGHGGVPGGRGAGGRTGAPLYPA. In isoform Beta-4E.
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
Inoue M.; Tamai K.; Shimizu H.; Owaribe K.; Nakama T.; Hashimoto T.; McGrath J.A.;
J. Invest. Dermatol. 114:1061-1064(2000)
Cited for: VARIANT GABEB ASP-931;
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