Variant position: 244 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 VEADTPGIQIGRKELNMGQR CSDTRGIVFEDVKVPKENVLI
Chimpanzee VEADTPGIQIGRKELNMGQR CSDTRGIVFEDVKVPRENVLI
Mouse VEADTPGIHIGKKELNMGQR CSDTRGIAFEDVRVPKENVLI
Rat VEADTPGIHIGKKELNMGQR CSDTRGITFEDVRVPKENVLI
Pig VEADTPGVQIGRKEINMGQR CSDTRGIVFEDVRVPKENVLT
Bovine VEADTPGVQIGRKELNMGQR CSDTRGIVFEDVRVPKENVLI
Caenorhabditis elegans VDGDTPGITRGKKEKNMGQR CSDTRVITFEDVRVPAENVLG
Drosophila VERDSPGLTPGRKELNMGQR ASDTRGITFEDVRVPKENVLI
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 survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
Yokota I.; Coates P.M.; Hale D.E.; Rinaldo P.; Tanaka K.;
Am. J. Hum. Genet. 49:1280-1291(1991)
Cited for: VARIANTS ACADMD ILE-149; ARG-244; ARG-267 AND THR-375;
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