Sequence information
Variant position: 195 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:
KAEKKGDEYIINGQKMWITN
G GKANWYFLLARSDPDPKAPA
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 KAEKKGDEYIINGQKMWITNG GKANWYFLLARSDPDPKAPA
Chimpanzee KAEKKGDEYIINGQKMWITNG GKANWYFLLARSDPDPKAPA
Mouse KAEKKGDEYVINGQKMWITNG GKANWYFLLARSNPDPKVPA
Rat KAEKKGDEYVINGQKMWITNG GKANWYFVLTRSNPDPKVPA
Pig KAEKKGDEYIINGQKMWITNG GKANWYFLLARSDPDPKAPA
Bovine KAEKKGDEYIINGQKMWITNG GKANWYFLLARSDPDPKAPA
Caenorhabditis elegans KCEKKGDEYIINGSKAWITGG GHAKWFFVLARSDPNPKTPA
Drosophila RAEKKGDEWVINGQKMWITNG GVANWYFVLARTNPDPKCPP
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
179 – 179
N6-succinyllysine
Modified residue
212 – 212
N6-acetyllysine; alternate
Modified residue
212 – 212
N6-succinyllysine; alternate
Mutagenesis
191 – 191
W -> A. Loss of electron transfer to ETF.
Mutagenesis
191 – 191
W -> F. Reduces rate of electron transfer to ETF about six-fold.
Turn
194 – 197
Literature citations
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Brackett J.C.; Sims H.F.; Steiner R.D.; Nunge M.; Zimmerman E.M.; Demartinville B.; Rinaldo P.; Slaugh R.; Strauss A.W.;
J. Clin. Invest. 94:1477-1483(1994)
Cited for: VARIANT ACADMD ARG-195;
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.