Variant position: 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 875 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 DLTYHNVYSRDPNYLNLFII VMENRNLHSPEYLEMALPLFC
Mouse DLTYHNVYTRDPNYLNLFII VMENSNLHSPEYLEMALPLFC
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
1 – 875 Ubiquitin-protein ligase E3A
The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.
Yamamoto Y.; Huibregtse J.M.; Howley P.M.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS I; II AND III); VARIANT GLY-290;
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.
Huibregtse J.M.; Scheffner M.; Howley P.M.;
Mol. Cell. Biol. 13:775-784(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 11-875; PARTIAL PROTEIN SEQUENCE; FUNCTION (MICROBIAL INFECTION); VARIANT GLY-290;
Mutations in the E6-AP gene (UBE3A) in patients with Angelman syndrome.
Hennies H.C.; Buerger J.; Sperling K.; Reis A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 25-787; VARIANT GLY-290;
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