Results for the protein: Q5JVL4

Results for the Protein: Q5JVL4

74762202

114327

EFHC1

NCBI, UniProt

EFHC1_HUMAN RecName: Full=EF-hand domain-containing protein 1; AltName: Full=Myoclonin-1

Known Diseases associated with this Protein:
  EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
  JUVENILE MYOCLONIC EPILEPSY 1 (EJM1)
  MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1

14

12

9

5

12

Tips:

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Default View: DM10 - smart00676 DUF1126 - pfam06565 EFh - cd00051	Swiss-Prot Protein: Q5JVL4 Identical to: NP_060570 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DM10	smart00676	2.2e-58	93	198
DUF1126	pfam06565	1.6e-16	121	153
DM10	smart00676	1.6e-65	239	359
DUF1126	pfam06565	3.9e-16	263	296
DM10	smart00676	5.5e-50	416	520
DUF1126	pfam06565	1e-15	439	471

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_043158	Polymorphism	p.ALA394SER	N/A
dbSNP	rs3804506	Polymorphism	p.ARG159GLY	N/A
dbSNP	rs3804505	Polymorphism	p.ARG182HIS	N/A
Swiss-Prot	VAR_023623	Disease	p.ARG221HIS	Juvenile myoclonic epilepsy 1 (EJM1)
Swiss-Prot	VAR_043156	Polymorphism	p.ARG294HIS	N/A
Swiss-Prot	VAR_026531	Polymorphism	p.ARG285ILE	N/A
Swiss-Prot	VAR_023620	Polymorphism	p.ARG159TRP	N/A
Swiss-Prot	VAR_043157	Disease	p.ARG353TRP	Juvenile myoclonic epilepsy 1 (EJM1)
Swiss-Prot	VAR_023622	Disease	p.ASP210ASN	Juvenile myoclonic epilepsy 1 (EJM1)
Swiss-Prot	VAR_023625	Disease	p.ASP253TYR	Juvenile myoclonic epilepsy 1 (EJM1)
Swiss-Prot	VAR_043155	Polymorphism	p.CYS259TYR	N/A
dbSNP	rs505760	Polymorphism	p.GLU357LYS	N/A
dbSNP	rs17851770	Polymorphism	p.ILE619LEU	N/A
Swiss-Prot	VAR_043154	Polymorphism	p.ILE174VAL	N/A
dbSNP	rs1266787	Polymorphism	p.MET448THR	N/A
Swiss-Prot	VAR_023624	Polymorphism	p.PHE229LEU	N/A
Swiss-Prot	VAR_023619	Disease	p.PRO77THR	Juvenile myoclonic epilepsy 1 (EJM1)
OMIM	608815.0001	Disease	p.ARG182HIS	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
OMIM	608815.0005	Disease	p.ARG221HIS	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
OMIM	608815.0003	Disease	p.ASP210ASN	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
OMIM	608815.0004	Disease	p.ASP253TYR	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
OMIM	608815.0007	Disease	p.CYS259TYR	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
OMIM	608815.0008	Disease	p.GLN277TER	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
OMIM	608815.0006	Disease	p.ILE174VAL	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
OMIM	608815.0002	Disease	p.PHE229LEU	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
OMIM	608815.0005	Disease	p.PRO77THR	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1

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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