UniProtKB/Swiss-Prot Q5JVL4: Variant p.Arg182His

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

182 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) to Histidine (H) at position 182 (R182H, p.Arg182His). 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 basic (R) to medium size and polar (H) 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:

No effect on cell death; binds to CACNA1E. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3804505 [ dbSNP | Ensembl ]

Sequence information Variant position:

182 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:

HYHWKDLNRGINITIYGKTF R VVDCDQFTQVFLESQGIELN 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                         HYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELN

Mouse                         HYHWKDLNRGINLTVYGKTFRIVDCDRFTQDFLESQGIELN

Bovine                        HYHWKDLNRGINITIYGKTFRIVDCDKFTQVFLESQGIELN

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
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; 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.