Sequence information
Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 640 The length of the canonical sequence.
Location on the sequence:
KFDAYFQEDVPMSTEEQYRI
R QVNIYYYLEDDSMSVIEPVV
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KFDAYFQEDVPMSTEEQYRIR QVNIYYYLEDDSMSVIEPVV
Mouse KFSAYFQEDVPISMEEHYRIR HVNIYYYLEDDSMSVIEPVV
Bovine KFDAYFQEDVPMSIEEHYRIR QVHIYYYLEDDSMSVIEPVV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 640
EF-hand domain-containing protein 1
Domain
93 – 198
DM10 1
Literature citations
Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
Jara-Prado A.; Martinez-Juarez I.E.; Ochoa A.; Gonzalez V.M.; Fernandez-Gonzalez-Aragon M.C.; Lopez-Ruiz M.; Medina M.T.; Bailey J.N.; Delgado-Escueta A.V.; Alonso M.E.;
Seizure 21:550-554(2012)
Cited for: VARIANTS EJM1 CYS-118; GLN-153 AND CYS-182;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.