UniProtKB/SwissProt variant VAR

Variant information

Variant position:

232

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Glycine (G) to Glutamate (E) at position 232 (G232E, p.Gly232Glu).

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 glycine (G) to medium size and acidic (E)

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

Involvement in disease:

Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]: An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. {ECO:0000269|PubMed:27817865}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In DYTOABG; probably decreased protein abundance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs762913101 [ dbSNP | Ensembl ]

Sequence information

Variant position:

232

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:

INVVRDRPDIQKLSDRLKSL G AEHVITEEELRRPEMKNFFK

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                         INVVRDRPDIQKLSDRLKSLGAEHVITEEELRRPEMKNFFK

Mouse                         INVVRDRPDIKKLTDRLKDLGADYVLTEEELRMPETKTIFK

Rat                           INVIRDRPDIKKLTDRLKDLGADYVLTEEELRMPETKNIFK

Bovine                        INVLRDTPDLQKLTDTLKNLGANHVVTEEELRKPEMKSFFK

Xenopus tropicalis            INVVRDREDLSSLIQRLRDLGADHVITEEQLRKPEMKDLFK

Zebrafish                     INVIRDRPDLRQLSDRLTAMGATHVITEETLRRPEMKELFK

Drosophila                    VGIVRDRPEIAELKQMLQCLGATEVLTEAEIRTS---DIFK

Slime mold                    INVIRDGSEFEDNVQRLKQLGGDIVVSEEYVRTPAFRKLIS

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
Modified residue	252 – 252	N6-acetyllysine; alternate
Modified residue	252 – 252	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.Gly232Glu