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Results for the Protein: P31939
23831360
471

PUR9_HUMAN RecName: Full=Bifunctional purine biosynthesis protein PURH; Includes: RecName: Full=Phosphoribosylaminoimidazolecarboxamide formyltransferase; AltName: Full=5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; AltName: Full=AICAR transformylase; Includes: RecName: Full=IMP cyclohydrolase; AltName: Full=ATIC; AltName: Full=IMP synthase; AltName: Full=Inosinicase

Known Diseases associated with this Protein:
  AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
  AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (AICAR)
2
2
1
2
1
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Default View:

PurH - COG0138
MGS_CPS_II - cd01424
IMPCH - cd01421
MGS-like - cd00532
MGS - smart00851
MGS - pfam02142
AICARFT_IMPCHas - smart00798
AICARFT_IMPCHas - pfam01808


Swiss-Prot Protein: P31939
Identical to: NP_004035
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PurHCOG01382e-2803592
IMPCHcd014212e-1275193
MGS_CPS_IIcd014240.00017590
MGS-likecd005322e-656154
MGSpfam021421.3e-4916130
AICARFT_IMPCHaspfam018081.1e-220135462
MGSsmart008518.2e-5216130
AICARFT_IMPCHassmart007981.2e-152135462

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019307Diseasep.LYS426ARGAICAR transformylase/IMP cyclohydrolase deficiency (AICAR)
dbSNPrs56117859 Polymorphismp.PRO471SERN/A
dbSNPrs2372536 Polymorphismp.THR116SERN/A
OMIM601731.0001 Diseasep.LYS426ARGAICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY



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