Variant position: 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 655 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 VFAKTPVTDPATGAVKEKIT AFVVERGFGGITHGPPEKKMG
Mouse VFAKTPIKDAATGAVKEKIT AFVVERSFGGVTHGLPEKKMG
Rat VFAKTPIKDAATGAVKEKIT AFVVERSFGGVTHGLPEKKMG
Bovine VFAKTPVTDTATGAVKEKIT AFVVERSFGGVTHGPPEKKMG
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
41 – 655 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
41 – 482 Catalytic
276 – 276 N6-acetyllysine; alternate
276 – 276 N6-succinyllysine; alternate
278 – 278 N6-acetyllysine; alternate
278 – 278 N6-succinyllysine; alternate
298 – 298 N6-acetyllysine
275 – 285
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.
Andresen B.S.; Bross P.; Vianey-Saban C.; Divry P.; Zabot M.-T.; Roe C.R.; Nada M.A.; Byskov A.; Kruse T.A.; Neve S.; Kristiansen K.; Knudsen I.; Corydon M.J.; Gregersen N.;
Hum. Mol. Genet. 5:461-472(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS ACADVLD MET-260; ASP-281; ALA-283; ALA-317; CYS-366; GLU-381 DEL; ASP-441 AND ILE-602;
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.