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Results for the Protein: Q9H9J2
51316917

RM44_HUMAN RecName: Full=39S ribosomal protein L44, mitochondrial; Short=L44mt; Short=MRP-L44; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (1 FAMILY)
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Default View:

Rnc - COG0571
RIBOc - smart00535
Ribonuclease_3 - pfam00636
DSRM - cd00048


Swiss-Prot Protein: Q9H9J2
Identical to: NP_075066
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RncCOG05718e-0661311
DSRMcd000480.00061236304
Ribonuclease_3pfam006360.00027123207
RIBOcsmart005350.0005986226

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11546406 Polymorphismp.THR138ILEN/A
OMIM611849.0001 Diseasep.LEU156ARGCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (1 family)



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