Results for the protein: O95970

Results for the Protein: O95970

32469669

9211

LGI1

NCBI, UniProt

LGI1_HUMAN RecName: Full=Leucine-rich glioma-inactivated protein 1; AltName: Full=Epitempin-1; Flags: Precursor

Known Diseases associated with this Protein:
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (ETL1)
EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT

23

0

6

0

17

Tips:

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Default View: LRR_TYP - smart00369 LRR - smart00370 LRRCT - smart00082 EPTP - pfam03736	Swiss-Prot Protein: O95970 Identical to: NP_005088 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EPTP	pfam03736	1.3e-13	270	313
EPTP	pfam03736	5.7e-19	316	364
EPTP	pfam03736	0.00017	365	415
EPTP	pfam03736	4.9e-16	418	462
EPTP	pfam03736	4.1e-14	463	506
EPTP	pfam03736	5.4e-16	509	557
LRR_TYP	smart00369	0.0002	114	137
LRR	smart00370	0.0002	114	137
LRR_TYP	smart00369	9.3e-06	138	161
LRR	smart00370	9.3e-06	138	161
LRRCT	smart00082	4.4e-09	173	222

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058539	Disease	p.ALA110ASP	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058542	Disease	p.ARG136TRP	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058545	Disease	p.CYS200ARG	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058538	Disease	p.CYS42ARG	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_015772	Disease	p.CYS46ARG	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_023008	Disease	p.CYS42GLY	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_015773	Disease	p.GLU383ALA	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058541	Disease	p.GLU123LYS	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058540	Disease	p.ILE122LYS	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058547	Disease	p.ILE298THR	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_015771	Disease	p.LEU26ARG	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058544	Disease	p.LEU154PRO	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058546	Disease	p.LEU232PRO	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_015774	Disease	p.PHE318CYS	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058543	Disease	p.SER145ARG	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_023009	Disease	p.SER473LEU	Epilepsy, familial temporal lobe, 1 (ETL1)
Swiss-Prot	VAR_058548	Disease	p.VAL432GLU	Epilepsy, familial temporal lobe, 1 (ETL1)
OMIM	604619.0010	Disease	p.ARG136TRP	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
OMIM	604619.0004	Disease	p.CYS46ARG	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
OMIM	604619.0001	Disease	p.GLU383ALA	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
OMIM	604619.0011	Disease	p.ILE122LYS	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
OMIM	604619.0009	Disease	p.LEU232PRO	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
OMIM	604619.0007	Disease	p.PHE318CYS	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT

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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