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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13608: Variant p.Pro274Leu

Peroxisomal ATPase PEX6
Gene: PEX6
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Variant information Variant position: help 274 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 Proline (P) to Leucine (L) at position 274 (P274L, p.Pro274Leu). 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 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: help -3 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 In HMLR2; results in severe functional decrease in peroxisome biogenesis. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 980 The length of the canonical sequence.
Location on the sequence: help RLGPGSGPLGEPLADGLALV P ATLAFNLGCDPLEMGELRIQ 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                         RLGPGSG-PLGEPLADGLALVPATLAFNL-GCDPLEMG------------ELRIQ

Mouse                         RLGPNSGQQPGEPLADGLVFLPATLAFNL-GCDPLEVG---

Rat                           RLGPNSG-QPGEPLADGLVFVPATLAFNL-GCDPLEVG---

Slime mold                    SLK----------LKDQVLYLPPISIFNL-NIDYKNFLKLS

Baker's yeast                 -LLPNG-------FKKRTIYAPPKIIASFPDCS--------

Fission yeast                 --------IKSDTEHDSVQLSPSLHYFDE------------
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 – 980 Peroxisomal ATPase PEX6
Alternative sequence 207 – 294 Missing. In isoform 3.



Literature citations
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik W.Y.; Steinberg S.J.; Moser A.B.; Moser H.W.; Hacia J.G.;
Hum. Mutat. 30:E467-E480(2009)
Cited for: INVOLVEMENT IN PBD-CG4; INVOLVEMENT IN HMLR2; VARIANTS PBD-CG4 THR-849; GLN-860 AND TRP-860; VARIANTS HMLR2 LEU-274 AND GLN-601; VARIANTS PRO-79; VAL-809; ILE-882; SER-924 AND GLN-939; Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6.
Ratbi I.; Falkenberg K.D.; Sommen M.; Al-Sheqaih N.; Guaoua S.; Vandeweyer G.; Urquhart J.E.; Chandler K.E.; Williams S.G.; Roberts N.A.; El Alloussi M.; Black G.C.; Ferdinandusse S.; Ramdi H.; Heimler A.; Fryer A.; Lynch S.A.; Cooper N.; Ong K.R.; Smith C.E.; Inglehearn C.F.; Mighell A.J.; Elcock C.; Poulter J.A.; Tischkowitz M.; Davies S.J.; Sefiani A.; Mironov A.A.; Newman W.G.; Waterham H.R.; Van Camp G.;
Am. J. Hum. Genet. 97:535-545(2015)
Cited for: INVOLVEMENT IN HMLR2; VARIANTS HMLR2 LEU-274; GLN-601 AND TRP-644; CHARACTERIZATION OF VARIANTS HMLR2 LEU-274; GLN-601 AND TRP-644;
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.