Variant position: 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 421 The length of the canonical sequence.
Location on the sequence:
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 EADTPGIQIGRKELNMGQRC SDTRGIVFEDVKVPKENVLIG
Chimpanzee EADTPGIQIGRKELNMGQRC SDTRGIVFEDVKVPRENVLIG
Mouse EADTPGIHIGKKELNMGQRC SDTRGIAFEDVRVPKENVLIG
Rat EADTPGIHIGKKELNMGQRC SDTRGITFEDVRVPKENVLIG
Pig EADTPGVQIGRKEINMGQRC SDTRGIVFEDVRVPKENVLTG
Bovine EADTPGVQIGRKELNMGQRC SDTRGIVFEDVRVPKENVLIG
Caenorhabditis elegans DGDTPGITRGKKEKNMGQRC SDTRVITFEDVRVPAENVLGA
Drosophila ERDSPGLTPGRKELNMGQRA SDTRGITFEDVRVPKENVLIG
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
26 – 421 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
259 – 259 N6-acetyllysine; alternate
259 – 259 N6-succinyllysine; alternate
237 – 237 E -> A. Strongly reduced rate of electron transfer to ETF.
Molecular and functional characterization of mild MCAD deficiency.
Zschocke J.; Schulze A.; Lindner M.; Fiesel S.; Olgemoller K.; Hoffmann G.F.; Penzien J.; Ruiter J.P.N.; Wanders R.J.A.; Mayatepek E.;
Hum. Genet. 108:404-408(2001)
Cited for: VARIANT ACADMD LEU-245;
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