Results for the protein: O75874

Results for the Protein: O75874

21903432

3417

IDH1

NCBI, UniProt

IDHC_HUMAN RecName: Full=Isocitrate dehydrogenase [NADP] cytoplasmic; Short=IDH; AltName: Full=Cytosolic NADP-isocitrate dehydrogenase; AltName: Full=IDP; AltName: Full=NADP(+)-specific ICDH; AltName: Full=Oxalosuccinate decarboxylase

			0 6 0 1 5

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Default View: Icd - COG0538 Iso_dh - pfam00180	Swiss-Prot Protein: O75874 Identical to: NP_005887 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Iso_dh	pfam00180	5.1e-73	9	401

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036013	Polymorphism	p.ARG132CYS	N/A
Swiss-Prot	VAR_055454	Polymorphism	p.ARG132GLY	N/A
Swiss-Prot	VAR_055455	Polymorphism	p.ARG132HIS	N/A
Swiss-Prot	VAR_055456	Polymorphism	p.ARG132LEU	N/A
Swiss-Prot	VAR_055457	Polymorphism	p.ARG132SER	N/A
dbSNP	rs34218846	Polymorphism	p.VAL178ILE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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