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Results for the Protein: NP_060245
406601114

tetratricopeptide repeat protein 19, mitochondrial isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
2
2
2
2
0
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Default View:

TPR - cd00189


RefSeq Protein: NP_060245
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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 ↕
dbSNPrs73276080 Polymorphismp.GLY117ARGN/A
dbSNPrs60636875 Polymorphismp.THR6LYSN/A
OMIM613814.0002 Diseasep.GLN173TERMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
OMIM613814.0001 Diseasep.LEU219TERMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2



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