UniProtKB/SwissProt variant VAR

Variant information

Variant position:

285

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 Tyrosine (Y) to Cysteine (C) at position 285 (Y285C, p.Tyr285Cys).

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 (Y) to medium size and polar (C)

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

BLOSUM score:

-2

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 DYTOABG.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs759218713 [ dbSNP | Ensembl ]

Sequence information

Variant position:

285

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

Protein sequence length:

373

The length of the canonical sequence.

Location on the sequence:

GGKSSTELLRQLARGGTMVT Y GGMAKQPVVASVSLLIFKDL

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                         GGKSSTELLRQLARGGTMVTYGGMAKQPVVASVSLLIFKDL

Mouse                         GGKSSTELLRHLAPGGTMVTYGGMAKQPVTASVSLLIFKDL

Rat                           GGKSSTELLRHLAPGGTMVTYGGMAKQPVTASVSMLIFKDL

Bovine                        GGKSSTELLRHLAPGGTMVTYGGMAKQPVIASVSQLIFKDL

Xenopus tropicalis            GGKSTTEMLRHLDYGGTMVTYGGMSKQPVTVPVSALIFKNV

Zebrafish                     GGKSATELLRHLQSGGSLVTYGGMAKQPVTVPVSALIFKDV

Drosophila                    GGKSATEVSRHLDNGGVLVTYGGMSREPVTVATGPLIFKDI

Slime mold                    GGQSATELSRILADNGTLVTYGGMSREPVTIPTSQLIFRNI

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	54 – 373	Enoyl-[acyl-carrier-protein] reductase, mitochondrial
Binding site	285 – 288
Modified residue	267 – 267	N6-acetyllysine; alternate
Modified residue	267 – 267	N6-succinyllysine; alternate

Literature citations

MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder.
Heimer G.; Keraetaer J.M.; Riley L.G.; Balasubramaniam S.; Eyal E.; Pietikaeinen L.P.; Hiltunen J.K.; Marek-Yagel D.; Hamada J.; Gregory A.; Rogers C.; Hogarth P.; Nance M.A.; Shalva N.; Veber A.; Tzadok M.; Nissenkorn A.; Tonduti D.; Renaldo F.; Kraoua I.; Panteghini C.; Valletta L.; Garavaglia B.; Cowley M.J.; Gayevskiy V.; Roscioli T.; Silberstein J.M.; Hoffmann C.; Raas-Rothschild A.; Tiranti V.; Anikster Y.; Christodoulou J.; Kastaniotis A.J.; Ben-Zeev B.; Hayflick S.J.;
Am. J. Hum. Genet. 99:1229-1244(2016)
Cited for: INVOLVEMENT IN DYTOABG; VARIANTS DYTOABG GLU-232; TRP-258; 285-TYR--MET-373 DEL AND CYS-285; CHARACTERIZATION OF VARIANTS DYTOABG GLU-232 AND 285-TYR--MET-373 DEL; FUNCTION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BV79: Variant p.Tyr285Cys