Sequence information
Variant position: 353 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:
KSLTILGRTFFIYDCDPFTR
R YYKEKFGITDLPRIDVSKRE
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 KSLTILGRTFFIYDCDPFTRR YYKEKFGITDLPRIDVSKRE
Mouse KPLTILGRTFFIYDCDPFTRQ FYKDKFGMPDLPPVDVTKKE
Bovine KPLTILGRTFFIYDCDPFTRQ YYQEKFGISDLPRIDMSKKE
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
239 – 359
DM10 2
Alternative sequence
279 – 640
Missing. In isoform 2.
Literature citations
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F.; Gambardella A.; Michelucci R.; Bianchi A.; Marini C.; Canevini M.P.; Capovilla G.; Elia M.; Buti D.; Chifari R.; Striano P.; Rocca F.E.; Castellotti B.; Cali F.; Labate A.; Lepiane E.; Besana D.; Sofia V.; Tabiadon G.; Tortorella G.; Vigliano P.; Vignoli A.; Beccaria F.; Annesi G.; Striano S.; Aguglia U.; Guerrini R.; Quattrone A.;
Epilepsia 48:1686-1690(2007)
Cited for: INVOLVEMENT IN EJM1; VARIANTS EJM1 LEU-229 AND TRP-353; VARIANT HIS-182;
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Raju P.K.; Satishchandra P.; Nayak S.; Iyer V.; Sinha S.; Anand A.;
Hum. Mutat. 38:816-826(2017)
Cited for: VARIANTS EJM1 ARG-89; LEU-229; LYS-322; TRP-353; CYS-355; TRP-372; GLU-378; CYS-436; HIS-485; SER-519; LEU-556; SER-619 AND CYS-631; CHARACTERIZATION OF VARIANTS EJM1 ARG-89; LYS-322; TRP-353; CYS-355; TRP-372; GLU-378; CYS-436; HIS-485; SER-519; LEU-556; SER-619 AND CYS-631; VARIANTS TRP-159; HIS-182; CYS-221; HIS-294; THR-448 AND LEU-619; FUNCTION; SUBCELLULAR LOCATION;
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.