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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50542: Variant p.Phe218Ser

Peroxisomal targeting signal 1 receptor
Gene: PEX5
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Variant information Variant position: help 218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Phenylalanine (F) to Serine (S) at position 218 (F218S, p.Phe218Ser). 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: help Change from large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help Found in a family with congenital cataract; likely pathogenic; impaired interaction with PEX7; impaired ability to mediate peroxisomal import of proteins containing a C-terminal PTS2-type targeting signal without affecting import of proteins with a PTS1 targeting signal. Any additional useful information about the variant.


Sequence information Variant position: help 218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 639 The length of the canonical sequence.
Location on the sequence: help ASDFVAKVDDPKLANSEFLK F VRQIGEGQVSLESGAGSGRA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ASDF---VAKVDDPKLANSEFLKFVRQIGEGQ---VSLESGAGSGR--A

Mouse                         ASDF---VSKVDDPKLANSEFLKFVRQIGEGQ---VSLESA

Rat                           ASDF---VSKVDDPKLANSEFLKFVRQIGEGQ---VSLESA

Bovine                        ASDF---VAKVDDPKLANSEFLKFVRQIGEGQ---VSLESG

Chicken                       ASDF---LSKVDDPKLNSSEFLKFVRQIGDGR---VSIEAN

Xenopus laevis                AKSL---VSQVTDPKLANTQFLQFVKRIGDGELSFSHAPST

Slime mold                    ISDITRPITQINDPKLKKSNFMKFMNQLNSGEASIVGSDVV

Baker's yeast                 KEGV---NEQEQQPW--TDQFEKLEKEVSENLD--INDEIE

Fission yeast                 WEEH---QKQLKNAGLEPASLEEYQKQWEDFL---KSNNIS
Sequence annotation in neighborhood: help 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 – 639 Peroxisomal targeting signal 1 receptor
Cross 209 – 209 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 215 – 251 Missing. In isoform 2.
Mutagenesis 209 – 209 K -> A. Does not affect monoubiquitination by TRIM37.
Mutagenesis 209 – 209 K -> R. Abolished interaction with SQSTM1, leading to decreased pexophagy in response to reactive oxygen species (ROS).



Literature citations
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M.; Khan S.Y.; Rodrigues T.A.; Francisco T.; Jiao X.; Qi H.; Kabir F.; Irum B.; Rauf B.; Khan A.A.; Mehmood A.; Naeem M.A.; Assir M.Z.; Ali M.H.; Shahzad M.; Abu-Amero K.K.; Akram S.J.; Akram J.; Riazuddin S.; Riazuddin S.; Robinson M.L.; Baes M.; Azevedo J.E.; Hejtmancik J.F.; Riazuddin S.A.;
Hum. Genet. 140:649-666(2021)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH PEX7; VARIANT SER-218; CHARACTERIZATION OF VARIANT SER-218;
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.