Gene Detail

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Gene Symbol IDH1
Synonyms HEL-216 | HEL-S-26 | IDCD | IDH | IDP | IDPC | PICD
Gene Description IDH1, isocitrate dehydrogenase (NADP(+)) 1, is an enzyme that catalyzes the conversion of isocitrate to alpha-ketoglutarate (alpha-KG) and is involved in the tricarboxylic acid cycle (PMID: 23999441, PMID: 28711227). Mutations in IDH1 are associated with aberrant conversion of alpha-KG to 2-HG, which is an oncogenic metabolite, and are recurrent in acute myeloid leukemia (PMID: 23999441) and glioma (PMID: 28711227, PMID: 32186930).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
G97X missense unknown IDH1 G97X indicates any Idh1 missense mutation that results in replacement of the glycine (G) at amino acid 97 by a different amino acid.
R100X missense unknown IDH1 R100X indicates any Idh1 missense mutation that results in replacement of the arginine (R) at amino acid 100 by a different amino acid.
R132X missense unknown IDH1 R132X indicates any Idh1 missense mutation that results in the replacement of the arginine (R) at amino acid 132 by a different amino acid. R132 variants are hotspot mutations in Idh1, which often results in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 19935646, PMID: 28330869, PMID: 21326614).
Y139X missense unknown IDH1 Y139X indicates any Idh1 missense mutation that results in replacement of the tyrosine (Y) at amino acid 139 by a different amino acid.
act mut unknown gain of function IDH1 act mut indicates that this variant results in a gain of function in the Idh1 protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function IDH1 inact mut indicates that this variant results in a loss of function of the Idh1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown IDH1 mutant indicates an unspecified mutation in the IDH1 gene.
G289fs frameshift loss of function - predicted IDH1 G289fs results in a change in the amino acid sequence of the Idh1 protein beginning at 289 of 414, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the large domain required for formation of the active site, S289fs is predicted to lead to a loss of Idh1 protein function (PMID: 20513808).
I5fs frameshift loss of function - predicted IDH1 I5fs results in a change in the amino acid sequence of the Idh1 protein beginning at 5 of 414, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I5fs is predicted to lead to a loss of Idh1 protein function.