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Results for the Protein: P82650
13633893

RT22_HUMAN RecName: Full=28S ribosomal protein S22, mitochondrial; Short=MRP-S22; Short=S22mt

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (COXPD5)
3
1
2
1
1
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MRP-S22 - pfam10245


Swiss-Prot Protein: P82650
Identical to: NP_064576
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MRP-S22pfam102451.4e-15567309

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_042733Diseasep.ARG170HISCombined oxidative phosphorylation deficiency 5 (COXPD5)
dbSNPrs73866065 Polymorphismp.ILE95LEUN/A
OMIM605810.0001 Diseasep.ARG170HISCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
OMIM605810.0002 Diseasep.LEU215PROCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5



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