Variant position: 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 980 The length of the canonical sequence.
Location on the sequence:
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 RLGPGSG-PLGEPLADGLALV PATLAFNL-GCD------------PLEMGELRIQ
Mouse RLGPNSGQQPGEPLADGLVFL PATLAFNL-GCD--------
Rat RLGPNSG-QPGEPLADGLVFV PATLAFNL-GCD--------
Slime mold RI---FSITSSLKLKDQVLYL PPISIFNL-NIDYKNFLKLS
Baker's yeast RLVKLFVLLLPNGFKKRTIYA PPKIIASFPDCS--------
Fission yeast RLSDGKNVYGIASIKSDTEHD SVQLSPSLHYFD--------
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
1 – 980 Peroxisome assembly factor 2
207 – 294 Missing. In isoform 3.
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;
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.