Sequence information
Variant position: 326 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:
RKTFGKLLVEHQAISFMLAE
M AMKVELARMSYQRAAWEVDS
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 RKTFGKLLVEHQAISFMLAEM AMKVELARMSYQRAAWEVDS
Chimpanzee RKTFGKLLVEHQAISFMLAEM AMKVELARMSYQRAAWEVDS
Mouse RKTFGKLLVEHQGVSFLLAEM AMKVELARLSYQRAAWEVDS
Rat RKTFGKLLVEHQGVSFLLAEM AMKVELARLSYQRAAWEVDS
Pig RKTFGKLLAEHQGISFLLADM AMKVELARLSYQRAAWEIDS
Bovine RKTFGKLLIEHQGISFLLAEM AMKVELARLSYQRAAWEVDS
Caenorhabditis elegans RKAFGTVIANHQAVQFMLADM AVNLELARLITYKSANDVDN
Drosophila RKTFGVPIAYHQAVQFMLADM AIGVETSRLAWRLSAWEIDQ
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
Helix
317 – 345
Literature citations
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
Andresen B.S.; Jensen T.G.; Bross P.; Knudsen I.; Winter V.; Koelvraa S.; Bolund L.; Ding J.-H.; Chen Y.-T.; van Hove J.L.K.; Curtis D.; Yokota I.; Tanaka K.; Kim J.-J.P.; Gregersen N.;
Am. J. Hum. Genet. 54:975-988(1994)
Cited for: VARIANTS ACADMD THR-326 AND ARG-336;
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.