Sequence information
Variant position: 258 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:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TEEELRRPEMKNFFKD--MPQPR LALNCVGGKSSTELLRQLAR
Mouse TEEELRMPETKTIFKD--LPLPR LALNCVGGKSSTELLRHL
Rat TEEELRMPETKNIFKD--LPLPR LALNCVGGKSSTELLRHL
Bovine TEEELRKPEMKSFFKD--VPQPR LALNCVGGKSSTELLRHL
Xenopus tropicalis TEEQLRKPEMKDLFKN--CPRPR LALNCVGGKSTTEMLRHL
Zebrafish TEETLRRPEMKELFKS--CPRPK LALNGVGGKSATELLRHL
Drosophila TEAEIRTS---DIFKSGKLKKPR LAFNCVGGKSATEVSRHL
Slime mold SEEYVRTPAFRKLISD--LPSPK LALNAVGGQSATELSRIL
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
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;
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.