Literature summary for 1.1.1.42 extracted from

Andrulis, M.; Capper, D.; Luft, T.; Hartmann, C.; Zentgraf, H.; von Deimling, A.
Detection of isocitrate dehydrogenase 1 mutation R132H in myelodysplastic syndrome by mutation-specific antibody and direct sequencing (2010), Leuk. Res., 34, 1091-1093.

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Protein Variants

Protein Variants	Comment	Organism
R132H	naturally occuring mutation in myelodysplastic syndrome preceding acute myeloid leukemia. R132H alteration can be detected by immunohistochemistry using R132H mutation-specific antibodies, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
bone marrow	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
isocitrate dehydrogenase 1	-	Homo sapiens
isocitrate dehydrogenase-1	-	Homo sapiens

General Information

General Information	Comment	Organism
additional information	enzyme mutation R132H is involved in myelodysplastic syndrome	Homo sapiens

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Release 2023.1 (January 2023)