Results for the protein: Q96CV9

Results for the Protein: Q96CV9

317373403

10133

OPTN

NCBI, UniProt

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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Default View: NEMO - pfam11577	Swiss-Prot Protein: Q96CV9 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_021547	Polymorphism	p.ARG545GLN	N/A
Swiss-Prot	VAR_021540	Disease	p.GLU103ASP	Glaucoma 1, open angle, E (GLC1E)
Swiss-Prot	VAR_063597	Disease	p.GLU478GLY	Amyotrophic lateral sclerosis 12 (ALS12)
Swiss-Prot	VAR_021538	Disease	p.GLU50LYS	Glaucoma 1, open angle, E (GLC1E)
Swiss-Prot	VAR_021546	Disease	p.HIS486ARG	Glaucoma 1, open angle, E (GLC1E)
Swiss-Prot	VAR_021537	Disease	p.HIS26ASP	Glaucoma 1, open angle, E (GLC1E)
Swiss-Prot	VAR_021544	Polymorphism	p.LYS322GLU	N/A
Swiss-Prot	VAR_021542	Polymorphism	p.LYS213HIS	N/A
Swiss-Prot	VAR_021539	Polymorphism	p.MET98LYS	N/A
Swiss-Prot	VAR_021541	Polymorphism	p.PRO201SER	N/A
Swiss-Prot	VAR_021543	Polymorphism	p.SER216ARG	N/A
Swiss-Prot	VAR_030769	Polymorphism	p.SER308PRO	N/A
Swiss-Prot	VAR_021545	Polymorphism	p.THR357PRO	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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