Results for the protein: Q9BQ52

Results for the Protein: Q9BQ52

41017788

60528

ELAC2

NCBI, UniProt

RNZ2_HUMAN RecName: Full=Zinc phosphodiesterase ELAC protein 2; AltName: Full=ElaC homolog protein 2; AltName: Full=Heredity prostate cancer protein 2; AltName: Full=Ribonuclease Z 2; Short=RNase Z 2; AltName: Full=tRNA 3 endonuclease 2; AltName: Full=tRNase Z 2; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
  PROSTATE CANCER, HEREDITARY, 2
  PROSTATE CANCER, HEREDITARY, 2 (HPC2)

15

3

8

1

9

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Default View: ElaC - COG1234 Lactamase_B - pfam00753	Swiss-Prot Protein: Q9BQ52 Identical to: NP_060597 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Lactamase_B	pfam00753	0.0001	494	702

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017428	Disease	p.ALA541THR	Prostate cancer, hereditary, 2 (HPC2)
Swiss-Prot	VAR_017425	Disease	p.ARG211GLN	Prostate cancer, hereditary, 2 (HPC2)
Swiss-Prot	VAR_017431	Disease	p.ARG781HIS	Prostate cancer, hereditary, 2 (HPC2)
Swiss-Prot	VAR_038211	Polymorphism	p.ASP436ASN	N/A
Swiss-Prot	VAR_017429	Disease	p.GLU622VAL	Prostate cancer, hereditary, 2 (HPC2)
Swiss-Prot	VAR_017427	Disease	p.GLY487ARG	Prostate cancer, hereditary, 2 (HPC2)
Swiss-Prot	VAR_017432	Disease	p.GLY806ARG	Prostate cancer, hereditary, 2 (HPC2)
dbSNP	rs4792311	Disease	p.SER217LEU	Prostate cancer, hereditary, 2 (HPC2)
Swiss-Prot	VAR_017430	Polymorphism	p.SER627LEU	N/A
Swiss-Prot	VAR_038210	Polymorphism	p.SER52PHE	N/A
OMIM	605367.0002	Disease	p.ALA541THR	PROSTATE CANCER, HEREDITARY, 2
OMIM	605367.0004	Disease	p.ARG781HIS	PROSTATE CANCER, HEREDITARY, 2
OMIM	605367.0006	Disease	p.ARG211TER	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM	605367.0005	Disease	p.GLU622VAL	PROSTATE CANCER, HEREDITARY, 2
OMIM	605367.0009	Disease	p.LEU423PHE	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM	605367.0008	Disease	p.PHE154LEU	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM	605367.0001	Disease	p.SER217LEU	PROSTATE CANCER, HEREDITARY, 2
OMIM	605367.0007	Disease	p.THR520ILE	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17

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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