Variant position: 329 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 FGKLLVEHQAISFMLAEMAM KVELARMSYQRAAWEVDSGRR
Chimpanzee FGKLLVEHQAISFMLAEMAM KVELARMSYQRAAWEVDSGRR
Mouse FGKLLVEHQGVSFLLAEMAM KVELARLSYQRAAWEVDSGRR
Rat FGKLLVEHQGVSFLLAEMAM KVELARLSYQRAAWEVDSGRR
Pig FGKLLAEHQGISFLLADMAM KVELARLSYQRAAWEIDSGRR
Bovine FGKLLIEHQGISFLLAEMAM KVELARLSYQRAAWEVDSGRR
Caenorhabditis elegans FGTVIANHQAVQFMLADMAV NLELARLITYKSANDVDNKVR
Drosophila FGVPIAYHQAVQFMLADMAI GVETSRLAWRLSAWEIDQGRR
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
317 – 345
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Matsubara Y.; Narisawa K.; Miyabayashi S.; Tada K.; Coates P.M.; Bachmann C.; Elsas L.J. II; Pollitt R.J.; Rhead W.J.; Roe C.R.;
Biochem. Biophys. Res. Commun. 171:498-505(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 314-342; VARIANT ACADMD GLU-329;
Medium chain acyl-CoA dehydrogenase, K304E mutant.
Battaile K.P.; Mohsen A.-W.; Vockley J.;
Cited for: X-RAY CRYSTALLOGRAPHY (1.73 ANGSTROMS) OF 35-421 OF VARIANT ACADMD GLU-329 IN COMPLEX WITH FAD; COFACTOR; SUBUNIT;
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
Yokota I.; Indo Y.; Coates P.M.; Tanaka K.;
J. Clin. Invest. 86:1000-1003(1990)
Cited for: VARIANT ACADMD GLU-329;
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Kelly D.P.; Whelan A.J.; Ogden M.L.; Alpers R.; Zhang Z.F.; Bellus G.; Gregersen N.; Dorland L.; Strauss A.W.;
Proc. Natl. Acad. Sci. U.S.A. 87:9236-9240(1990)
Cited for: VARIANT ACADMD GLU-329; FUNCTION; PATHWAY;
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
Gregersen N.; Andresen B.S.; Bross P.; Winter V.; Ruediger N.; Engst S.; Christensen E.; Kelly D.; Strauss A.W.; Koelvraa S.; Bolund L.; Ghisla S.;
Hum. Genet. 86:545-551(1991)
Cited for: VARIANT ACADMD GLU-329;
Frequency of the G985 MCAD mutation in the general population.
Blakemore A.I.; Singleton H.; Pollitt R.J.; Engel P.C.; Kolvraa S.; Gregersen N.; Curtis D.;
Cited for: VARIANT ACADMD GLU-329 FREQUENCY;
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Yang B.-Z.; Ding J.-H.; Zhou C.; Dimachkie M.M.; Sweetman L.; Dasouki M.J.; Wilkinson J.; Roe C.R.;
Mol. Genet. Metab. 69:259-262(2000)
Cited for: VARIANTS ACADMD LEU-206 AND GLU-329;
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Albers S.; Levy H.L.; Irons M.; Strauss A.W.; Marsden D.;
J. Inherit. Metab. Dis. 24:417-418(2001)
Cited for: VARIANTS ACADMD THR-281 AND GLU-329;
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