Sequence information
Variant position: 302 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 415 The length of the canonical sequence.
Location on the sequence:
SCSLGAAHASVILTRDHLNV
R KQFGEPLASNQYLQFTLADM
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 SCSLGAAHASVILTRDHLNVR KQFGEPLASNQYLQFTLADM
Mouse SCSLGAAHASVILTQEHLKVR KQFGAPLARSQYLQFQLADM
Bovine SCSLGAAHASIVLARDYLKVR KQFGEPLANSQYLQFQLADM
Slime mold ACSLGGAQSCLVAARDHVKVR KQFNQPLEHFQAVQFKMADM
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
23 – 415
Isobutyryl-CoA dehydrogenase, mitochondrial
Binding site
302 – 302
FAD; shared with dimeric partner
Literature citations
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
Nguyen T.V.; Andresen B.S.; Corydon T.J.; Ghisla S.; Abd El-Razik N.; Mohsen A.W.; Cederbaum S.D.; Roe D.S.; Roe C.R.; Lench N.J.; Vockley J.;
Mol. Genet. Metab. 77:68-79(2002)
Cited for: VARIANT IBDD GLN-302; CHARACTERIZATION OF VARIANT IBDD GLN-302; INVOLVEMENT IN IBDD; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; BIOPHYSICOCHEMICAL PROPERTIES; SUBSTRATE SPECIFICITY; SUBCELLULAR LOCATION;
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
Pedersen C.B.; Bischoff C.; Christensen E.; Simonsen H.; Lund A.M.; Young S.P.; Koeberl D.D.; Millington D.S.; Roe C.R.; Roe D.S.; Wanders R.J.A.; Ruiter J.P.N.; Keppen L.D.; Stein Q.; Knudsen I.; Gregersen N.; Andresen B.S.;
Pediatr. Res. 60:315-320(2006)
Cited for: VARIANTS IBDD TYR-134; ARG-137; THR-152; GLN-302; THR-320; CYS-334 AND ARG-385; CHARACTERIZATION OF VARIANTS IBDD ARG-137; GLN-302 AND THR-320; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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.