Sequence information
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:
QVKPDGTYVKPLSNKLTYGT
M VFVRSFLVGEAARALSKACT
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 QVKPDGTYVKPLSNKLTYGTM VFVRSFLVGEAARALSKACT
Mouse QVKPDGTYVKPLSNKLTYGTM VFVRSFLVGSAAQSLSKACT
Rat QVKPDGTYVKPLSNKLTYGTM VFVRSFLVGNAAQSLSKACT
Bovine QVKPDGTYVKPLNNKLTYGTM VFIRSFLVGESARSLSKACT
Drosophila QVLPDGTYVAPKNSVLTYGTM MFVRCALIRDTAQSLAKAST
Slime mold RVNEQGEYEKPKHPKLIYAGM VGVRSSMIENSFVSLSRAVT
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
1 – 660
Peroxisomal acyl-CoA oxidase 1, A chain
Chain
1 – 468
Peroxisomal acyl-CoA oxidase 1, B chain
Modified residue
267 – 267
N6-acetyllysine
Modified residue
272 – 272
N6-acetyllysine
Literature citations
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;
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.