PhenoModifier-Variant Detail

Variant "IDH2:p.Arg172"

Search result: 1 record

Variant information

Gene:

IDH2

Variant:

IDH2:p.Arg172

dbSNP ID:

no data

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered gene activity(1)

Detail：

Target disease:

Blood Platelet Disease (DOID_2218)

Effect type:

Expressivity

Modifier effect:

Altered gene activity

Evidence:

From review article

Effect:

In AML, missense mutations at conserved residues (R132 in IDH1; R140 and R172 in IDH2) result in a change in substrate specificity causing mutant IDH1/2 to instead use α-KG as a substrate and catalyze its conversion into 2-HG in a reaction that consumes NADPH leading to the accumulation of 2-HG in the cell

Reference:

PMID24813528

Title:

Epigenetic deregulation in myeloid malignancies.

Species studied:

Human

Abstract:

Abnormal epigenetic patterning commonly is observed in cancer, including the myeloid malignancies acute myeloid leukemia and myelodysplastic syndromes. However, despite the universal nature of epigenetic deregulation, specific subtypes of myeloid disorders are associated with distinct epigenetic profiles, which accurately reflect the biologic heterogeneity of these disorders. In addition, mutations and genetic alterations of epigenetic-modifying enzymes frequently have been reported in these myeloid malignancies, emphasizing the importance of epigenetic deregulation in the initiation, progression, and outcome of these disorders. These aberrant epigenetic modifiers have become new targets for drug design, because their inhibition can potentially reverse the altered epigenetic landscapes that contribute to the development of the leukemia. In this review, we provide an overview of the role of epigenetic deregulation in leukemic transformation and their potential for therapeutic targeting.