Results for the protein: O43837

Results for the Protein: O43837

146345439

3420

IDH3B

NCBI, UniProt

IDH3B_HUMAN RecName: Full=Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial; AltName: Full=Isocitric dehydrogenase subunit beta; AltName: Full=NAD(+)-specific ICDH subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 46
RETINITIS PIGMENTOSA 46 (RP46)

2

3

1

0

4

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Default View: Icd - COG0538 LeuB - COG0473 Iso_dh - pfam00180	Swiss-Prot Protein: O43837 Identical to: NP_008830 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LeuB	COG0473	1e-95	46	380
Iso_dh	pfam00180	6.4e-74	50	376

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_022660	Polymorphism	p.ALA3VAL	N/A
Swiss-Prot	VAR_049781	Polymorphism	p.GLN166HIS	N/A
Swiss-Prot	VAR_054851	Disease	p.LEU132PRO	Retinitis pigmentosa 46 (RP46)
Swiss-Prot	VAR_056005	Polymorphism	p.THR360ALA	N/A
OMIM	604526.0002	Disease	p.LEU98PRO	RETINITIS PIGMENTOSA 46

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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