Variant position: 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 660 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 QVKPDGTYVKPLSNKLTYGT MVFVRSFLVGEAARALSKACT
Mouse QVKPDGTYVKPLSNKLTYGT MVFVRSFLVGSAAQSLSKACT
Rat QVKPDGTYVKPLSNKLTYGT MVFVRSFLVGNAAQSLSKACT
Bovine QVKPDGTYVKPLNNKLTYGT MVFIRSFLVGESARSLSKACT
Drosophila QVLPDGTYVAPKNSVLTYGT MMFVRCALIRDTAQSLAKAST
Slime mold RVNEQGEYEKPKHPKLIYAG MVGVRSSMIENSFVSLSRAVT
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
1 – 660 Peroxisomal acyl-CoA oxidase 1, A chain
1 – 468 Peroxisomal acyl-CoA oxidase 1, B chain
267 – 267 N6-acetyllysine
272 – 272 N6-acetyllysine
Peroxisomal acyl-CoA oxidase deficiency.
Suzuki Y.; Iai M.; Kamei A.; Tanabe Y.; Chida S.; Yamaguchi S.; Zhang Z.; Takemoto Y.; Shimozawa N.; Kondo N.;
J. Pediatr. 140:128-130(2002)
Cited for: VARIANTS PSEUDO-NALD CYS-178 AND VAL-278;
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Ferdinandusse S.; Denis S.; Hogenhout E.M.; Koster J.; van Roermund C.W.; Ijlst L.; Moser A.B.; Wanders R.J.; Waterham H.R.;
Hum. Mutat. 28:904-912(2007)
Cited for: VARIANTS PSEUDO-NALD VAL-64 DEL; CYS-178; LEU-184; VAL-231; VAL-278; ARG-309 AND PRO-310; FUNCTION;
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.