Results for the protein: Q12879

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PBP1_iGluR_NMDA_NR1	cd06379	2.1e-06	9	392
PBP1_iGluR_NMDA_NR3	cd06377	0.00025	17	391
PBP1_iGluR_NMDA	cd06367	7.8e-177	32	391
PBP1_iGluR_NMDA_NR2	cd06378	8.4e-213	32	392
PBP1_ABC_transporter	cd04509	1.9e-06	35	362
PBP1_glutamate_recep	cd06269	2.9e-31	35	386
PBP1_iGluR_N_LIVBP_l	cd06351	3.1e-78	35	384
PBP1_GABAb_receptor	cd06366	0.00024	68	387
SBP_bac_3	pfam00497	2.7e-13	440	798
Lig_chan	pfam00060	3e-107	554	828
Lig_chan-Glu_bd	pfam10613	8.3e-24	436	502
PBPe	smart00079	1.6e-29	661	798
NMDAR2_C	pfam10565		839	1464

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067746	Polymorphism	p.ALA1276GLY	N/A
Swiss-Prot	VAR_070358	Disease	p.ALA548THR	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070365	Disease	p.ALA716THR	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070366	Disease	p.ALA727THR	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070348	Disease	p.ALA243VAL	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070349	Disease	p.ALA290VAL	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070355	Disease	p.ARG518HIS	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067747	Polymorphism	p.ARG1285LYS	N/A
Swiss-Prot	VAR_067739	Polymorphism	p.ARG920LYS	N/A
Swiss-Prot	VAR_067748	Polymorphism	p.ARG1318TRP	N/A
Swiss-Prot	VAR_070351	Disease	p.ARG370TRP	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070354	Disease	p.ARG504TRP	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_065899	Disease	p.ASN615LYS	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070373	Disease	p.ASN976SER	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067744	Polymorphism	p.ASP1153ASN	N/A
Swiss-Prot	VAR_070374	Disease	p.ASP1251ASN	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067750	Polymorphism	p.ASP1421ASN	N/A
Swiss-Prot	VAR_067727	Polymorphism	p.ASP252ASN	N/A
Swiss-Prot	VAR_070367	Disease	p.ASP731ASN	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070372	Polymorphism	p.ASP933ASN	N/A
Swiss-Prot	VAR_070352	Disease	p.CYS436ARG	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070347	Polymorphism	p.CYS231TYR	N/A
Swiss-Prot	VAR_067742	Polymorphism	p.GLU1073LYS	N/A
Swiss-Prot	VAR_067745	Polymorphism	p.GLU1175LYS	N/A
Swiss-Prot	VAR_067752	Polymorphism	p.GLU1426LYS	N/A
Swiss-Prot	VAR_067729	Polymorphism	p.GLU371LYS	N/A
Swiss-Prot	VAR_067730	Polymorphism	p.GLU373LYS	N/A
Swiss-Prot	VAR_070364	Disease	p.GLU714LYS	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067741	Polymorphism	p.GLU962LYS	N/A
Swiss-Prot	VAR_070353	Polymorphism	p.GLY483ARG	N/A
Swiss-Prot	VAR_067731	Polymorphism	p.GLY449GLU	N/A
Swiss-Prot	VAR_067736	Polymorphism	p.GLY712GLU	N/A
Swiss-Prot	VAR_067738	Polymorphism	p.GLY889GLU	N/A
Swiss-Prot	VAR_070350	Polymorphism	p.GLY295SER	N/A
Swiss-Prot	VAR_067737	Polymorphism	p.GLY740TRP	N/A
Swiss-Prot	VAR_067733	Polymorphism	p.HIS595ARG	N/A
Swiss-Prot	VAR_070371	Disease	p.ILE904PHE	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070346	Polymorphism	p.ILE184SER	N/A
Swiss-Prot	VAR_070361	Disease	p.ILE694THR	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070370	Polymorphism	p.ILE814THR	N/A
Swiss-Prot	VAR_069383	Disease	p.LEU649VAL	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070360	Disease	p.LYS669ASN	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_010938	Polymorphism	p.LYS270GLU	N/A
Swiss-Prot	VAR_070369	Disease	p.LYS772GLU	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067735	Polymorphism	p.MET653ILE	N/A
Swiss-Prot	VAR_070363	Polymorphism	p.MET705VAL	N/A
Swiss-Prot	VAR_067726	Polymorphism	p.PHE183ILE	N/A
Swiss-Prot	VAR_067732	Polymorphism	p.PHE459SER	N/A
Swiss-Prot	VAR_070359	Disease	p.PHE652VAL	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_069382	Disease	p.PRO552ARG	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070345	Disease	p.PRO79ARG	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067743	Polymorphism	p.PRO1074LEU	N/A
Swiss-Prot	VAR_067749	Polymorphism	p.PRO1366LEU	N/A
Swiss-Prot	VAR_067725	Polymorphism	p.PRO57LEU	N/A
Swiss-Prot	VAR_070362	Disease	p.PRO699SER	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_067753	Polymorphism	p.SER1462CYS	N/A
Swiss-Prot	VAR_067751	Polymorphism	p.SER1425LEU	N/A
Swiss-Prot	VAR_067728	Polymorphism	p.SER278PHE	N/A
Swiss-Prot	VAR_067734	Polymorphism	p.SER598PHE	N/A
Swiss-Prot	VAR_067740	Polymorphism	p.SER929PHE	N/A
Swiss-Prot	VAR_070356	Disease	p.THR531MET	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Swiss-Prot	VAR_070368	Polymorphism	p.VAL734LEU	N/A
OMIM	138253.0009	Disease	p.ARG518HIS	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0011	Disease	p.ARG681TER	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0002	Disease	p.ASN615LYS	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0001	Disease	p.GLN218TER	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0003	Disease	p.LEU649VAL	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0010	Disease	p.PHE652VAL	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0004	Disease	p.PRO522ARG	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0007	Disease	p.THR531MET	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
OMIM	138253.0012	Disease	p.TYR943TER	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION

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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