UniProtKB/SwissProt variant VAR

Variant information

Variant position:

353

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

Type of variant:

LP/P [Disclaimer]

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 Tryptophan (W) at position 353 (R353W, p.Arg353Trp).

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 large size and aromatic (W)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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; no effect on protein expression; no effect on the spindle pole localization; defective mitotic spindle organization; defective cytokinesis.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs527295360 [ dbSNP | Ensembl ]

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                         KSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKRE

Mouse                         KPLTILGRTFFIYDCDPFTRQFYKDKFGMPDLPPVDVTKKE

Bovine                        KPLTILGRTFFIYDCDPFTRQYYQEKFGISDLPRIDMSKKE

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5JVL4: Variant p.Arg353Trp