Variant position: 581 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1283 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 SLGVSSLEHITHSLLGRPLS RQLMSLVAGLRN---GALLLTGGK
Mouse ALGASAMEHITHSLLGRPLS RQLMALVAGLRN---GALLIT
Slime mold KQIKQAKEFLSLYMY----- KDLSVIREQLNTPGVNGMIIA
Baker's yeast RTSKDEDDFITVNSIKKEMV NYLTSPIIAT-----PAIILD
Fission yeast AQVRNAV-FLHQNIY----- -------------------IN
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 – 1283 Peroxisome biogenesis factor 1
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 HMLR1; VARIANTS HMLR1 PRO-581 AND TRP-705; CHARACTERIZATION OF VARIANTS HMLR1 PRO-581 AND TRP-705;
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