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Results for the Protein: Q96CV9
317373403

OPTN_HUMAN RecName: Full=Optineurin; AltName: Full=E3-14.7K-interacting protein; AltName: Full=FIP-2; AltName: Full=Huntingtin yeast partner L; AltName: Full=Huntingtin-interacting protein 7; Short=HIP-7; AltName: Full=Huntingtin-interacting protein L; AltName: Full=NEMO-related protein; AltName: Full=Optic neuropathy-inducing protein; AltName: Full=Transcription factor IIIA-interacting protein; Short=TFIIIA-IntP

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 12 (ALS12)
  GLAUCOMA 1, OPEN ANGLE, E (GLC1E)
5
8
0
0
13
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NEMO - pfam11577


Swiss-Prot Protein: Q96CV9
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NEMOpfam115771.1e-3437104

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021547Polymorphismp.ARG545GLNN/A
Swiss-ProtVAR_021540Diseasep.GLU103ASPGlaucoma 1, open angle, E (GLC1E)
Swiss-ProtVAR_063597Diseasep.GLU478GLYAmyotrophic lateral sclerosis 12 (ALS12)
Swiss-ProtVAR_021538Diseasep.GLU50LYSGlaucoma 1, open angle, E (GLC1E)
Swiss-ProtVAR_021546Diseasep.HIS486ARGGlaucoma 1, open angle, E (GLC1E)
Swiss-ProtVAR_021537Diseasep.HIS26ASPGlaucoma 1, open angle, E (GLC1E)
Swiss-ProtVAR_021544Polymorphismp.LYS322GLUN/A
Swiss-ProtVAR_021542Polymorphismp.LYS213HISN/A
Swiss-ProtVAR_021539Polymorphismp.MET98LYSN/A
Swiss-ProtVAR_021541Polymorphismp.PRO201SERN/A
Swiss-ProtVAR_021543Polymorphismp.SER216ARGN/A
Swiss-ProtVAR_030769Polymorphismp.SER308PRON/A
Swiss-ProtVAR_021545Polymorphismp.THR357PRON/A



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