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Results for the Protein: Q9NRR6
212276439

INP5E_HUMAN RecName: Full=72 kDa inositol polyphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; AltName: Full=Phosphatidylinositol polyphosphate 5-phosphatase type IV

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 1
  JOUBERT SYNDROME 1 (JBTS1)
  MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS
11
1
5
0
7
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Default View:

COG5411 - COG5411
IPPc - smart00128
Exo_endo_phos - pfam03372


Swiss-Prot Protein: Q9NRR6
Identical to: NP_063945
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5411COG54112.3e-10270641
Exo_endo_phospfam033722.6e-49301591
IPPcsmart001282.6e-54297599

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063012Diseasep.ARG378CYSJoubert syndrome 1 (JBTS1)
Swiss-ProtVAR_063013Diseasep.ARG435GLNJoubert syndrome 1 (JBTS1)
Swiss-ProtVAR_063016Diseasep.ARG563HISJoubert syndrome 1 (JBTS1)
Swiss-ProtVAR_063014Diseasep.ARG512TRPJoubert syndrome 1 (JBTS1)
Swiss-ProtVAR_063015Diseasep.ARG515TRPJoubert syndrome 1 (JBTS1)
Swiss-ProtVAR_047078Polymorphismp.ILE201METN/A
Swiss-ProtVAR_063017Diseasep.LYS580GLUJoubert syndrome 1 (JBTS1)
OMIM613037.0005 Diseasep.ARG378CYSJOUBERT SYNDROME 1
OMIM613037.0004 Diseasep.ARG435GLNJOUBERT SYNDROME 1
OMIM613037.0003 Diseasep.ARG563HISJOUBERT SYNDROME 1
OMIM613037.0002 Diseasep.ARG515TRPJOUBERT SYNDROME 1
OMIM613037.0001 Diseasep.GLN627TERMENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS



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