Variant position: 84 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 358 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 ISAYIDPAAFNDEFLADLFQ HSRQQEKAKAAVGPTGGGGGG
Mouse ISAYIDPAAFNDEFLADLFQ HSRQQEKAKAAAGPAGG--GG
Rat ISAYIDPAAFNDEFLADLFQ HSRQQEKAKAAAGPAGG--GG
Bovine ISAYIDPAAFNDEFLADLFQ HSRQQEKAKAAAAPAGG--GN
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 – 358 CCAAT/enhancer-binding protein alpha
1 – 119 Missing. In isoform 3.
64 – 64 I -> A. Decreased interaction with TRIB1.
65 – 65 S -> A. No effect on interaction with TRIB1.
67 – 67 Y -> A. Decreased interaction with TRIB1.
67 – 67 Y -> F. No effect on interaction with TRIB1.
68 – 68 I -> A. Decreased interaction with TRIB1.
69 – 69 D -> A. No effect on interaction with TRIB1.
Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia.
Pabst T.; Mueller B.U.; Zhang P.; Radomska H.S.; Narravula S.; Schnittger S.; Behre G.; Hiddemann W.; Tenen D.G.;
Nat. Genet. 27:263-270(2001)
Cited for: VARIANTS AML LEU-84 AND LYS-312 INS; CHARACTERIZATION OF VARIANTS AML LEU-84 AND LYS-312 INS; INVOLVEMENT IN AML; FUNCTION; SUBCELLULAR LOCATION; ALTERNATIVE TRANSLATIONAL INITIATION; DNA-BINDING;
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.