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UniProtKB/Swiss-Prot Q5JVL4: Variant p.Phe229Leu

EF-hand domain-containing protein 1
Gene: EFHC1
Variant information

Variant position:  229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Phenylalanine (F) to Leucine (L) at position 229 (F229L, p.Phe229Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In EJM1; uncertain pathological significance; also found at homozygosity in neonatal intractable epilepsy; reduces substantially the cell death effect; reduces significantly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  229
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:   LDPYTELRKQPLRKYVTPSD  F DQLKQFLTFDKQVLRFYAIW
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                         LDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIW

Mouse                         LDPYTQLRKEPVRKYVTPSDFDQLKQFLTFDKQVLRFYAIW

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.

TypePositionsDescription
Chain 1 – 640 EF-hand domain-containing protein 1


Literature citations

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;

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.;
Neurology 67:2029-2031(2006)
Cited for: INVOLVEMENT IN JAE1; VARIANTS TRP-159; VAL-174; HIS-182; LEU-229; TYR-259; HIS-294; SER-394 AND THR-448;

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;

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;

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger I.; Dor T.; Halvardson J.; Edvardson S.; Shaag A.; Feuk L.; Elpeleg O.;
Epilepsia 53:1436-1440(2012)
Cited for: VARIANT EJM1 LEU-229; POSSIBLE INVOLVEMENT IN INTRACTABLE EPILEPSY OF INFANCY;

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.