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UniProtKB/Swiss-Prot Q9BV79 : Variant p.Gly232Glu
Enoyl-[acyl-carrier-protein] reductase, mitochondrial
Gene: MECR
Variant information
Variant position: 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]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 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: -2The 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; probably decreased protein abundance.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
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 INVVRDRPDIQKLSDRLKSLG AEHVITEEELRRPEMKNFFK
Mouse INVVRDRPDIKKLTDRLKDLG ADYVLTEEELRMPETKTIFK
Rat INVIRDRPDIKKLTDRLKDLG ADYVLTEEELRMPETKNIFK
Bovine INVLRDTPDLQKLTDTLKNLG ANHVVTEEELRKPEMKSFFK
Xenopus tropicalis INVVRDREDLSSLIQRLRDLG ADHVITEEQLRKPEMKDLFK
Zebrafish INVIRDRPDLRQLSDRLTAMG ATHVITEETLRRPEMKELFK
Drosophila VGIVRDRPEIAELKQMLQCLG ATEVLTEAEIRTS---DIFK
Slime mold INVIRDGSEFEDNVQRLKQLG GDIVVSEEYVRTPAFRKLIS
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;
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.