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UniProtKB/Swiss-Prot Q15067: Variant p.Met278Val

Peroxisomal acyl-coenzyme A oxidase 1
Gene: ACOX1
Variant information

Variant position:  278
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Methionine (M) to Valine (V) at position 278 (M278V, p.Met278Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]: A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. {ECO:0000269|PubMed:11815777, ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:8040306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In pseudo-NALD.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



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                         QVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACT

Mouse                         QVKPDGTYVKPLSNKLTYGTMVFVRSFLVGSAAQSLSKACT

Rat                           QVKPDGTYVKPLSNKLTYGTMVFVRSFLVGNAAQSLSKACT

Bovine                        QVKPDGTYVKPLNNKLTYGTMVFIRSFLVGESARSLSKACT

Drosophila                    QVLPDGTYVAPKNSVLTYGTMMFVRCALIRDTAQSLAKAST

Slime mold                    RVNEQGEYEKPKHPKLIYAGMVGVRSSMIENSFVSLSRAVT

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.

TypePositionsDescription
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.