Variant position: 116 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 GGLGLGTFDACLISEELAYG CTGVQTAIEGNSLGQMPIIIA
Chimpanzee GGLGLGTFDACLISEELAYG CTGVQTAIEGNSLGQMPIIIA
Mouse GGLGLGTFDACLITEELAYG CTGVQTAIEANSLGQMPVILA
Rat GGLGLGTFDACLITEELAYG CTGVQTAIEANSLGQMPVIIA
Pig GGLGLGIIDSCLITEELAYG CTGVQTAIEANTLGQVPLIIG
Bovine GGLGLGTFDSCLISEELAYG CTGVQTAIEANSLGQMPVIIA
Caenorhabditis elegans GGPGMTTLETALIVEALSYG CTGIQLGIMGPSLAIAPVYIS
Drosophila GGLDLDVFTTCLSAEELAYG CTGIMTALEASGLGQTPVILS
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
98 – 98 L -> W. Strongly reduced rate of electron transfer to ETF.
100 – 100 L -> Y. Strongly reduced rate of electron transfer to ETF.
108 – 108 I -> M. Strongly reduced rate of electron transfer to ETF.
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Andresen B.S.; Bross P.; Udvari S.; Kirk J.; Gray G.; Kmoch S.; Chamoles N.; Knudsen I.; Winter V.; Wilcken B.; Yokota I.; Hart K.; Packman S.; Harpey J.P.; Saudubray J.-M.; Hale D.E.; Bolund L.; Koelvraa S.; Gregersen N.;
Hum. Mol. Genet. 6:695-707(1997)
Cited for: VARIANTS ACADMD TYR-116; ALA-193 AND CYS-352;
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.