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Results for the Protein: Q9Y2Z2
20981712

MTO1_HUMAN RecName: Full=Protein MTO1 homolog, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (COXPD10)
3
1
2
1
1
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Default View:

GidA - COG0445
Gid - COG1206
GIDA - pfam01134


Swiss-Prot Protein: Q9Y2Z2
Identical to: NP_598400
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GidCOG12060.0009334547
GIDApfam011347.8e-21638461

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068693Diseasep.ALA453THRCombined oxidative phosphorylation deficiency 10 (COXPD10)
dbSNPrs2036039 Polymorphismp.LEU419METN/A
OMIM614667.0003 Diseasep.ARG462HISCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
OMIM614667.0004 Diseasep.THR436ILECOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10



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