Variant position: 210 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:
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 TQVFLESQGIELNPPEKMAL DPYTELRKQPLRKYVTPSDFD
Mouse TQDFLESQGIELNPSEKIPL DPYTQLRKEPVRKYVTPSDFD
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
1 – 640 EF-hand domain-containing protein 1
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Suzuki T.; Delgado-Escueta A.V.; Aguan K.; Alonso M.E.; Shi J.; Hara Y.; Nishida M.; Numata T.; Medina M.T.; Takeuchi T.; Morita R.; Bai D.; Ganesh S.; Sugimoto Y.; Inazawa J.; Bailey J.N.; Ochoa A.; Jara-Prado A.; Rasmussen A.; Ramos-Peek J.; Cordova S.; Rubio-Donnadieu F.; Inoue Y.; Osawa M.; Kaneko S.; Oguni H.; Mori Y.; Yamakawa K.;
Nat. Genet. 36:842-849(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [MRNA] OF 557-640 (ISOFORM 1); FUNCTION; INTERACTION WITH CACNA1E; TISSUE SPECIFICITY; VARIANTS EJM1 THR-77; ASN-210; HIS-221; LEU-229 AND TYR-253; CHARACTERIZATION OF VARIANTS EJM1 THR-77; ASN-210; HIS-221; LEU-229 AND TYR-253; VARIANTS TRP-159; HIS-182 AND LEU-619; CHARACTERIZATION OF VARIANTS TRP-159; HIS-182 AND LEU-619;
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
de Nijs L.; Wolkoff N.; Coumans B.; Delgado-Escueta A.V.; Grisar T.; Lakaye B.;
Hum. Mol. Genet. 21:5106-5117(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS EJM1 ASN-210; HIS-221; LEU-229 AND TYR-253; CHARACTERIZATION OF VARIANTS TRP-159 AND LEU-619;
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.