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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BV79: Variant p.Arg258Trp

Enoyl-[acyl-carrier-protein] reductase, mitochondrial
Gene: MECR
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Variant information Variant position: help 258 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 258 (R258W, p.Arg258Trp). 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: help 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: help -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: help In DYTOABG and OPA16; reduced protein levels in OPA16 patient cells; partially functional in a Drosophila mecr mutant model. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 258 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 373 The length of the canonical sequence.
Location on the sequence: help TEEELRRPEMKNFFKDMPQP R LALNCVGGKSSTELLRQLAR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TEEELRRPEMKNFFKD--MPQPRLALNCVGGKSSTELLRQLAR

Mouse                         TEEELRMPETKTIFKD--LPLPRLALNCVGGKSSTELLRHL

Rat                           TEEELRMPETKNIFKD--LPLPRLALNCVGGKSSTELLRHL

Bovine                        TEEELRKPEMKSFFKD--VPQPRLALNCVGGKSSTELLRHL

Xenopus tropicalis            TEEQLRKPEMKDLFKN--CPRPRLALNCVGGKSTTEMLRHL

Zebrafish                     TEETLRRPEMKELFKS--CPRPKLALNGVGGKSATELLRHL

Drosophila                    TEAEIRTSDI---FKSGKLKKPRLAFNCVGGKSATEVSRHL

Slime mold                    SEEYVRTPAFRKLISD--LPSPKLALNAVGGQSATELSRIL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 54 – 373 Enoyl-[acyl-carrier-protein] reductase, mitochondrial
Modified residue 252 – 252 N6-acetyllysine; alternate
Modified residue 252 – 252 N6-succinyllysine; alternate
Modified residue 267 – 267 N6-acetyllysine; alternate
Modified residue 267 – 267 N6-succinyllysine; alternate
Beta strand 258 – 264



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; Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C.; Degiorgi A.; Cascavilla M.L.; Tropeano C.V.; La Morgia C.; Battista M.; Ormanbekova D.; Palombo F.; Carbonelli M.; Bandello F.; Carelli V.; Maresca A.; Barboni P.; Baruffini E.; Caporali L.;
J. Med. Genet. 61:93-101(2023)
Cited for: VARIANT OPA16 TRP-258; CHARACTERIZATION OF VARIANT OPA16 TRP-258; INVOLVEMENT IN OPA16;
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.