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UniProtKB/Swiss-Prot Q9Y5Y5: Variant p.Tyr331Cys

Peroxisomal membrane protein PEX16
Gene: PEX16
Chromosomal location: 11p11.11
Variant information

Variant position:  331
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 Tyrosine (Y) to Cysteine (C) at position 331 (Y331C, p.Tyr331Cys).
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:  Change from large size and aromatic (Y) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269|PubMed:20647552}. 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 PBD8B.
Any additional useful information about the variant.

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



Sequence information

Variant position:  331
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  336
The length of the canonical sequence.

Location on the sequence:   PGVGLVTRPLMDYLPTWQKI  Y FYSWG
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                         PGVGLVT--------RPLMDYLPTWQKIYFYSWG-

Mouse                         PGVGLVA--------RPLMDYLPSWQ

Bovine                        PGIGLVT--------RPLMDYLPNWQ

Xenopus laevis                PGLGLVA--------RPLMDYLPVWQ

Xenopus tropicalis            PGVGLVA--------RPLMDYLPVWQ

Zebrafish                     PGVGLVA--------RPLMEYLPIWQ

Slime mold                    HIFKTLI--------DILINYLNVYR

Fission yeast                 PVFGKYLLLSVEERQKSLENYISSVR

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 – 336 Peroxisomal membrane protein PEX16
Topological domain 132 – 336 Cytoplasmic
Region 221 – 336 Interaction with PEX19
Alternative sequence 318 – 336 RPLMDYLPTWQKIYFYSWG -> TSQRAASPCLPARPHTQPWSPPAFLPGHP. In isoform 2.


Literature citations

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Ebberink M.S.; Csanyi B.; Chong W.K.; Denis S.; Sharp P.; Mooijer P.A.; Dekker C.J.; Spooner C.; Ngu L.H.; De Sousa C.; Wanders R.J.; Fietz M.J.; Clayton P.T.; Waterham H.R.; Ferdinandusse S.;
J. Med. Genet. 47:608-615(2010)
Cited for: VARIANTS PBD8B VAL-252 DEL; THR-289 AND CYS-331;

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.