Sequence information
Variant position: 317 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:
EKKMGIKASNTAEVFFDGVR
V PSENVLGEVGSGFKVAMHIL
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 EKKMGIKASNTAEVFFDGVRV PSENVLGEVGSGFKVAMHIL
Mouse EKKMGIKASNTSEVYFDGVKV PSENVLGEVGDGFKVAVNIL
Rat EKKMGIKASNTSEVYFDGVKV PAENVLGEVGDGFKVAVNIL
Bovine EKKMGIKASNTAEVYFDGVRV PAENVLGEVGGGFKVAMHIL
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
41 – 655
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
Region
41 – 482
Catalytic
Modified residue
298 – 298
N6-acetyllysine
Modified residue
331 – 331
N6-acetyllysine; alternate
Modified residue
331 – 331
N6-succinyllysine; alternate
Beta strand
307 – 318
Literature citations
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;
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.