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Results for the Protein: NP_001159434
260166619

zinc phosphodiesterase ELAC protein 2 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
  PROSTATE CANCER, HEREDITARY, 2
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Default View:

ElaC - COG1234
Lactamase_B - pfam00753




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ElaCCOG12344.1e-48440715
Lactamase_Bpfam007530.0001454662

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605367.0002 Diseasep.ALA501THRPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0004 Diseasep.ARG741HISPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0006 Diseasep.ARG1TERCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM605367.0005 Diseasep.GLU582VALPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0009 Diseasep.LEU383PHECOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM605367.0008 Diseasep.PHE154LEUCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM605367.0001 Diseasep.SER1LEUPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0007 Diseasep.THR480ILECOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17



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