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 GGKSSTELLRQLARGGTMVTY GGMAKQPVVASVSLLIFKDL
Mouse GGKSSTELLRHLAPGGTMVTY GGMAKQPVTASVSLLIFKDL
Rat GGKSSTELLRHLAPGGTMVTY GGMAKQPVTASVSMLIFKDL
Bovine GGKSSTELLRHLAPGGTMVTY GGMAKQPVIASVSQLIFKDL
Xenopus tropicalis GGKSTTEMLRHLDYGGTMVTY GGMSKQPVTVPVSALIFKNV
Zebrafish GGKSATELLRHLQSGGSLVTY GGMAKQPVTVPVSALIFKDV
Drosophila GGKSATEVSRHLDNGGVLVTY GGMSREPVTVATGPLIFKDI
Slime mold GGQSATELSRILADNGTLVTY GGMSREPVTIPTSQLIFRNI
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
Nucleotide binding
285 – 288
NADP
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;
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.