LIS - Legume Information System
Information about legume traits for crop improvement
GlycineMine
v5.1.0.3
Glycine data from LIS
v5.1.0.3
Glycine data from LIS
| Type | Repeat |
| Description | Most of the hereditary idiopathic epilepsies are due to mutation in ion channels expressed in brain. Recently two non-ion channel genes LGI1 andVGLR1 have emerged as important causes of specific epilepsy syndromes. The product of these two genes share a conserved repeated region of about 44 aminoacid residues, the EAR domain (for epilepsy-associated repeat) [ ].The predicted secondary structure (four β-strands) and the numbers of repeated copies (seven) suggest that the EAR domain belongs to theβ-propeller fold. A common functional feature found in all characterised domains of this class is a participation in protein-protein interactions.Since the EAR repeat is found in the ectodomain of VLGR1, it is most probably involved in ligand recognition by the receptor [ ].Proteins known to contain EAR repeats are listed below:Mammalian LGI1 to LGI4. LGI1 is mutated in autosomal dominant partial epilepsy with auditory features (ADPEAF). The F348C missense mutation islocated in the third EAR repeat (7 copies).Mammalian thrombo-spondin N-terminal domain and EAR repeats containg protein (TSPEAR) (7 copies).Mammalian very large G protein-coupled receptor 1 (VGLR1) or monogenic audiogenic seizure-susceptible (MASS1) protein. In mouse, mutations inMASS1 gene are associated with generalized epilepsy and seizures in response to loud noises (7 copies) []. |
| Short Name | EAR |
