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Results for the Protein: Q9NWS8
91208248

RMND1_HUMAN RecName: Full=Required for meiotic nuclear division protein 1 homolog; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (COXPD11)
2
4
1
4
1
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Default View:

COG1723 - COG1723
DUF155 - pfam02582


Swiss-Prot Protein: Q9NWS8
Identical to: NP_060379
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1723COG17231.5e-24103447
DUF155pfam025825.8e-68225404

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069036Diseasep.ARG417GLNCombined oxidative phosphorylation deficiency 11 (COXPD11)
dbSNPrs6934360 Polymorphismp.ARG47HISN/A
dbSNPrs35188477 Polymorphismp.GLU286ASPN/A
dbSNPrs11550103 Polymorphismp.SER42ILEN/A
dbSNPrs3734800 Polymorphismp.THR132METN/A
OMIM614917.0002 Diseasep.ARG417GLNCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11



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