Results for the protein: P42263

Results for the Protein: P42263

77416864

2892

GRIA3

NCBI, UniProt

GRIA3_HUMAN RecName: Full=Glutamate receptor 3; Short=GluR-3; AltName: Full=AMPA-selective glutamate receptor 3; AltName: Full=GluR-C; AltName: Full=GluR-K3; AltName: Full=Glutamate receptor ionotropic, AMPA 3; Short=GluA3; Flags: Precursor

Known Diseases associated with this Protein:
MENTAL RETARDATION, X-LINKED 94 (MRX94)

4

1

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5

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Swiss-Prot Protein: P42263

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PBP1_iGluR_Kainate_G	cd06393	1.6e-18	32	408
Periplasmic_Binding_	cd01391	1.1e-43	35	383
PBP1_ABC_transporter	cd04509	2.1e-71	35	384
PBP1_glutamate_recep	cd06269	4.6e-62	35	409
PBP1_iGluR_N_LIVBP_l	cd06351	9.4e-115	35	406
PBP1_GABAb_receptor	cd06366	1.9e-07	35	409
PBP1_iGluR_non_NMDA_	cd06368	9.5e-161	35	406
PBP1_iGluR_AMPA	cd06380	7.5e-216	35	406
PBP1_iGluR_delta_lik	cd06381	4e-06	35	409
PBP1_iGluR_Kainate	cd06382	1.6e-41	35	406
PBP1_iGluR_AMPA_GluR	cd06387		35	406
PBP1_iGluR_AMPA_GluR	cd06388	3.3e-216	35	407
PBP1_iGluR_AMPA_GluR	cd06389	5e-189	35	407
PBP1_iGluR_AMPA_GluR	cd06390	1.5e-168	35	406
PBP1_iGluR_delta_1	cd06392	0.00027	35	407
PBP1_iGluR_delta_2	cd06391	1.5e-06	35	407
PBP1_iGluR_AMPA_Like	cd06383	3.9e-06	38	408
PBPb	cd00134	2.5e-05	425	799
ANF_receptor	pfam01094	4.5e-53	46	389
SBP_bac_3	pfam00497	3.8e-21	425	801
Lig_chan	pfam00060	5.8e-156	552	835
Lig_chan-Glu_bd	pfam10613	4.8e-37	434	499
PBPe	smart00079	3.9e-70	664	801

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_043484	Disease	p.ARG450GLN	Mental retardation, X-linked 94 (MRX94)
Swiss-Prot	VAR_043485	Disease	p.ARG631SER	Mental retardation, X-linked 94 (MRX94)
Swiss-Prot	VAR_043487	Disease	p.GLY833ARG	Mental retardation, X-linked 94 (MRX94)
Swiss-Prot	VAR_043486	Disease	p.MET706THR	Mental retardation, X-linked 94 (MRX94)
Swiss-Prot	VAR_023579	Polymorphism	p.PHE525LEU	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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