Results for the protein: P07954

Results for the Protein: P07954

1730117

2271

FH

NCBI, UniProt

FUMH_HUMAN RecName: Full=Fumarate hydratase, mitochondrial; Short=Fumarase; Flags: Precursor

Known Diseases associated with this Protein:
  FUMARASE DEFICIENCY
  FUMARASE DEFICIENCY (FHD)
  HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
  HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (HLRCC)

20

0

9

0

11

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Default View: FumaraseC_C - pfam10415	Swiss-Prot Protein: P07954 Identical to: NP_000134 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013498	Disease	p.ALA117PRO	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_002446	Disease	p.ALA308THR	Fumarase deficiency (FHD)
Swiss-Prot	VAR_013501	Disease	p.ARG233HIS	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_013497	Disease	p.ASN107THR	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_002448	Disease	p.ASP425VAL	Fumarase deficiency (FHD)
Swiss-Prot	VAR_013500	Disease	p.GLN185ARG	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_013502	Disease	p.GLY282VAL	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_013499	Disease	p.HIS180ARG	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_002445	Disease	p.LYS230ARG	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_013503	Disease	p.MET328ARG	Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Swiss-Prot	VAR_002447	Disease	p.PHE312CYS	Fumarase deficiency (FHD)
OMIM	136850.0001	Disease	p.ALA265THR	FUMARASE DEFICIENCY
OMIM	136850.0007	Disease	p.ARG190HIS	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM	136850.0008	Disease	p.ARG190LEU	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM	136850.0009	Disease	p.ARG58PRO	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM	136850.0006	Disease	p.ARG300TER	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM	136850.0003	Disease	p.ARG58TER	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM	136850.0004	Disease	p.ASN64THR	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
OMIM	136850.0002	Disease	p.GLU319GLN	FUMARASE DEFICIENCY
OMIM	136850.0010	Disease	p.PRO174ARG	FUMARASE DEFICIENCY

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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