Sequence information
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:
VEADTPGIQIGRKELNMGQR
C SDTRGIVFEDVKVPKENVLI
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 VEADTPGIQIGRKELNMGQRC SDTRGIVFEDVKVPKENVLI
Chimpanzee VEADTPGIQIGRKELNMGQRC SDTRGIVFEDVKVPRENVLI
Mouse VEADTPGIHIGKKELNMGQRC SDTRGIAFEDVRVPKENVLI
Rat VEADTPGIHIGKKELNMGQRC SDTRGITFEDVRVPKENVLI
Pig VEADTPGVQIGRKEINMGQRC SDTRGIVFEDVRVPKENVLT
Bovine VEADTPGVQIGRKELNMGQRC SDTRGIVFEDVRVPKENVLI
Caenorhabditis elegans VDGDTPGITRGKKEKNMGQRC SDTRVITFEDVRVPAENVLG
Drosophila VERDSPGLTPGRKELNMGQRA SDTRGITFEDVRVPKENVLI
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
26 – 421
Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Modified residue
259 – 259
N6-acetyllysine; alternate
Modified residue
259 – 259
N6-succinyllysine; alternate
Mutagenesis
237 – 237
E -> A. Strongly reduced rate of electron transfer to ETF.
Literature citations
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;
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.