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UniProtKB/Swiss-Prot P49715: Variant p.His84Leu

CCAAT/enhancer-binding protein alpha
Gene: CEBPA
Variant information

Variant position:  84
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Histidine (H) to Leucine (L) at position 84 (H84L, p.His84Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (H) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:11242107, ECO:0000269|PubMed:12661007, ECO:0000269|PubMed:15575056}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AML; no effect on expression; no effect on DNA-binding or transactivation activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   ISAYIDPAAFNDEFLADLFQ  H SRQQEKAKAAVGPTGGGGGG
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                         ISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGGGG

Mouse                         ISAYIDPAAFNDEFLADLFQHSRQQEKAKAAAGPAGG--GG

Rat                           ISAYIDPAAFNDEFLADLFQHSRQQEKAKAAAGPAGG--GG

Bovine                        ISAYIDPAAFNDEFLADLFQHSRQQEKAKAAAAPAGG--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.

TypePositionsDescription
Chain 1 – 358 CCAAT/enhancer-binding protein alpha
Alternative sequence 1 – 119 Missing. In isoform 3.
Mutagenesis 64 – 64 I -> A. Decreased interaction with TRIB1.
Mutagenesis 65 – 65 S -> A. No effect on interaction with TRIB1.
Mutagenesis 67 – 67 Y -> A. Decreased interaction with TRIB1.
Mutagenesis 67 – 67 Y -> F. No effect on interaction with TRIB1.
Mutagenesis 68 – 68 I -> A. Decreased interaction with TRIB1.
Mutagenesis 69 – 69 D -> A. No effect on interaction with TRIB1.


Literature citations

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;

Disclaimer: 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.