Variant position: 1013 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 QPEDISESKVEDCKMESTET EERSTELKTEIKEEEDQPSTS
Mouse QPEDTKEAKGEDVKVEPTEM EERGPELKTDGKEEEEQPSTS
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
1020 – 1020 N6-acetyllysine; alternate
1024 – 1024 N6-acetyllysine; alternate
1020 – 1020 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
1024 – 1024 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
1020 – 1020 K -> A. Abolishes sumoylation and transcriptional repression when associated with A-1024.
1020 – 1020 K -> R. Abolishes sumoylation and transcriptional repression; when associated with R-1024.
1024 – 1024 K -> A. Abolishes sumoylation and transcriptional repression; when associated with A-1020.
1024 – 1024 K -> R. Abolishes sumoylation and transcriptional repression; when associated with R-1020.
Mutations truncating the EP300 acetylase in human cancers.
Gayther S.A.; Batley S.J.; Linger L.; Bannister A.; Thorpe K.; Chin S.-F.; Daigo Y.; Russell P.; Wilson A.; Sowter H.M.; Delhanty J.D.A.; Ponder B.A.J.; Kouzarides T.; Caldas C.;
Nat. Genet. 24:300-303(2000)
Cited for: VARIANTS PRO-827; GLY-1013; TYR-1650 AND GLN-2221; POSSIBLE INVOLVEMENT IN CANCER;
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.