Variant position: 448 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 SPIPEDKDRRFVFSYFLATD MISIFEPPVRNSGIIGGKYLG
Mouse SPIPEDKDRRFVFSYFLATD MISIFEPPVRNSGIIGGKFLG
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
416 – 520 DM10 3
279 – 640 Missing. In isoform 2.
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
Stogmann E.; Lichtner P.; Baumgartner C.; Bonelli S.; Assem-Hilger E.; Leutmezer F.; Schmied M.; Hotzy C.; Strom T.M.; Meitinger T.; Zimprich F.; Zimprich A.;
Cited for: INVOLVEMENT IN JAE1; VARIANTS TRP-159; VAL-174; HIS-182; LEU-229; TYR-259; HIS-294; SER-394 AND THR-448;
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;
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.