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Results for the Protein: Q8TCS8
115502437

PNPT1_HUMAN RecName: Full=Polyribonucleotide nucleotidyltransferase 1, mitochondrial; AltName: Full=3'-5' RNA exonuclease OLD35; AltName: Full=PNPase old-35; AltName: Full=Polynucleotide phosphorylase 1; Short=PNPase 1; AltName: Full=Polynucleotide phosphorylase-like protein; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (COXPD13)
  DEAFNESS, AUTOSOMAL RECESSIVE 70
  DEAFNESS, AUTOSOMAL RECESSIVE, 70 (DFNB70)
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Default View:

Pnp - COG1185
RNase_PH - pfam01138
RNase_PH_C - pfam03725
PNPase - pfam03726
Rph - COG0689
KH - smart00322
PNPase_KH - cd02393
KH_1 - pfam00013
KH-I - cd00105
S1 - smart00316
S1_RPS1_repeat_hs4 - cd05692
S1_PNPase - cd04472


Swiss-Prot Protein: Q8TCS8
Identical to: NP_149100
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PnpCOG11852.8e-22341754
RphCOG06896.7e-07350594
PNPase_KHcd023930.00012605665
KH-Icd001051.5e-07607665
S1_PNPasecd044720.00014679749
S1_RPS1_repeat_hs4cd056920.00056679750
RNase_PHpfam011383.5e-4152183
RNase_PH_Cpfam037255.4e-15186251
PNPasepfam037264.4e-06282363
RNase_PHpfam011387e-30366501
RNase_PH_Cpfam037250.0005504581
KH_1pfam000131.3e-08607664
KHsmart003223.3e-08604669
S1smart003160.00012677750

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7594497 Polymorphismp.ASN590ASPN/A
Swiss-ProtVAR_069248Diseasep.GLN387ARGCombined oxidative phosphorylation deficiency 13 (COXPD13)
Swiss-ProtVAR_050610Polymorphismp.GLU230GLNN/A
Swiss-ProtVAR_069249Diseasep.GLU475GLYDeafness, autosomal recessive, 70 (DFNB70)
dbSNPrs782572 Polymorphismp.ILE121VALN/A
OMIM610316.0001 Diseasep.GLN387ARGCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
OMIM610316.0002 Diseasep.GLU475GLYDEAFNESS, AUTOSOMAL RECESSIVE 70



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