Variant position: 67 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 EFQATARKFAREEIIPVAAE YDKTGEYPVPLIRRAWELGLM
Chimpanzee EFQATARKFAREEIIPVAAE YDKTGEYPVPLIRRAWELGLM
Mouse EFQATARKFAREEIIPVAPE YDKSGEYPFPLIKRAWELGLI
Rat EFQTIARKFAREEIIPVAPD YDKSGEYPFPLIKRAWELGLI
Pig EFQATARKFAREEIIPVAAE YDRTGEYPVPLLKRAWELGLM
Bovine EFQATARKFAREEIIPLAAE YDKTGEYPVPLIKRAWELGLM
Caenorhabditis elegans EIQDAALKFSKDVLVPNAAK FDESGEFPWEIVRQAHSLGLM
Drosophila QLQELARKFTREEIIPVAAQ YDKSGEYPWPIIKKAWELGLM
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
69 – 69 N6-acetyllysine; alternate
69 – 69 N6-succinyllysine; alternate
86 – 86 L -> M. Strongly reduced rate of electron transfer to ETF.
61 – 70
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen B.S.; Dobrowolski S.F.; O'Reilly L.; Muenzer J.; McCandless S.E.; Frazier D.M.; Udvari S.; Bross P.; Knudsen I.; Banas R.; Chace D.H.; Engel P.C.; Naylor E.W.; Gregersen N.;
Am. J. Hum. Genet. 68:1408-1418(2001)
Cited for: VARIANTS ACADMD HIS-67; THR-78; ILE-121 AND ARG-310;
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.