Variant position: 121 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 GTFDACLISEELAYGCTGVQ TAIEGNSLGQMPIIIAGNDQQ
Chimpanzee GTFDACLISEELAYGCTGVQ TAIEGNSLGQMPIIIAGNDQQ
Mouse GTFDACLITEELAYGCTGVQ TAIEANSLGQMPVILAGNDQQ
Rat GTFDACLITEELAYGCTGVQ TAIEANSLGQMPVIIAGNDQQ
Pig GIIDSCLITEELAYGCTGVQ TAIEANTLGQVPLIIGGNYQQ
Bovine GTFDSCLISEELAYGCTGVQ TAIEANSLGQMPVIIAGNDQQ
Caenorhabditis elegans TTLETALIVEALSYGCTGIQ LGIMGPSLAIAPVYISGNEEQ
Drosophila DVFTTCLSAEELAYGCTGIM TALEASGLGQTPVILSGNKEQ
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
108 – 108 I -> M. Strongly reduced rate of electron transfer to ETF.
117 – 136
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;
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