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Results for the Protein: Q7LG56
74727333

RIR2B_HUMAN RecName: Full=Ribonucleoside-diphosphate reductase subunit M2 B; AltName: Full=TP53-inducible ribonucleotide reductase M2 B; AltName: Full=p53-inducible ribonucleotide reductase small subunit 2-like protein; Short=p53R2

Known Diseases associated with this Protein:
  AUTOSOMAL DOMINANT, 5
  MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH
  MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (MTDPS8A)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MTDPS8B)
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
  RENAL TUBULOPATHY)
  VARIANT OF UNKNOWN SIGNIFICANCE
19
1
10
0
10
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Default View:

NrdF - COG0208
Ribonuc_red_sm - pfam00268
RNRR2 - cd01049


Swiss-Prot Protein: Q7LG56
Identical to: NP_056528
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RNRR2cd010492.9e-15742317
Ribonuc_red_smpfam002683e-17632313

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065122Diseasep.ARG110HISMitochondrial DNA depletion syndrome 8B (MTDPS8B)
Swiss-ProtVAR_065123Diseasep.ARG121HISMitochondrial DNA depletion syndrome 8B (MTDPS8B)
Swiss-ProtVAR_046222Diseasep.CYS236PHEMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_046219Diseasep.GLU194GLYMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_046220Diseasep.GLU194LYSMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_046221Diseasep.ILE224SERMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_046224Diseasep.LEU317VALMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_046223Diseasep.MET282ILEMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_046217Diseasep.TRP64ARGMitochondrial DNA depletion syndrome 8A (MTDPS8A)
Swiss-ProtVAR_025699Polymorphismp.VAL115LEUN/A
OMIM604712.0008 Diseasep.ARG38HISMITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
OMIM604712.0009 Diseasep.ARG49HISMITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
OMIM604712.0006 Diseasep.ARG255TERPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 5
OMIM604712.0005 Diseasep.CYS164PHEMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY)
OMIM604712.0001 Diseasep.GLN212TERMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY)
OMIM604712.0003 Diseasep.GLU122LYSMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY)
OMIM604712.0013 Diseasep.GLY201SERVARIANT OF UNKNOWN SIGNIFICANCE
OMIM604712.0007 Diseasep.GLY157VALMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH||RENAL TUBULOPATHY)
OMIM604712.0012 Diseasep.PHE130LEUVARIANT OF UNKNOWN SIGNIFICANCE
OMIM604712.0014 Diseasep.PRO1SERVARIANT OF UNKNOWN SIGNIFICANCE



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