Variant position: 1511 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2414 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 TEDRLTSAKELPYFEGDFWP NVLEESIKELEQEEEERKREE
Mouse TEDRLTSAKELPYFEGDFWP NVLEESIKELEQEEEERKREE
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
2 – 2414 Histone acetyltransferase p300
1287 – 1663 CBP/p300-type HAT
1499 – 1499 N6-acetyllysine; by autocatalysis
1505 – 1505 E -> R. 90% decrease in activity; when associated with R-1625 and R-1628. 90% decrease in activity; when associated with R-1357; R-1625 and R-1628.
1508 – 1517
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Negri G.; Milani D.; Colapietro P.; Forzano F.; Della Monica M.; Rusconi D.; Consonni L.; Caffi L.G.; Finelli P.; Scarano G.; Magnani C.; Selicorni A.; Spena S.; Larizza L.; Gervasini C.;
Clin. Genet. 87:148-154(2015)
Cited for: VARIANT ILE-1511;
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