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Results for the Protein: Q9BY32
30173120

ITPA_HUMAN RecName: Full=Inosine triphosphate pyrophosphatase; Short=ITPase; Short=Inosine triphosphatase; AltName: Full=Non-canonical purine NTP pyrophosphatase; AltName: Full=Non-standard purine NTP pyrophosphatase; AltName: Full=Nucleoside-triphosphate diphosphatase; AltName: Full=Nucleoside-triphosphate pyrophosphatase; Short=NTPase; AltName: Full=Putative oncogene protein hlc14-06-p

Known Diseases associated with this Protein:
  INOSINE TRIPHOSPHATASE DEFICIENCY
  INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY (ITPAD)
2
2
1
2
1
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Default View:

COG0127 - COG0127
Ham1p_like - pfam01725
HAM1 - cd00515
Maf_Ham1 - cd00985


Swiss-Prot Protein: Q9BY32
Identical to: NP_258412
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0127COG01272.1e-577193
HAM1cd005151.1e-8610188
Maf_Ham1cd009851.7e-5010188
Ham1p_likepfam017251.1e-7210189

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111069069 Polymorphismp.PRO32SERN/A
dbSNPrs1127354 Polymorphismp.PRO32THRN/A
Swiss-ProtVAR_015576Diseasep.PRO32THRInosine triphosphate pyrophosphohydrolase deficiency (ITPAD)
OMIM147520.0001 Diseasep.PRO32THRINOSINE TRIPHOSPHATASE DEFICIENCY



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