Variant position: 198 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 441 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 EHRDRSASATYYFKDQSAAE IGD-------KSWLYLRTLKQ-EE-ETHIR
Mouse EHRDRSASATYFFEDQVAAK VEN-------RSWLYLRKVKQ
Bovine EHRDGSASSTYYFKDQSAVE IGN-------KSWLYLRTLKR
Chicken EHRDESASATYFCKKKADSE PEEDQTSGVEKEWIYYRKLRA
Caenorhabditis elegans EHKDHSACWTYQLTEKNGEL VEQ---------PIKIKLIEK
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
22 – 441 Platelet-activating factor acetylhydrolase
205 – 205 Y -> A. Impairs the association with LDL particles.
193 – 198
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-45; HIS-92; ASN-191; THR-198 AND ALA-379;
Identification of a domain that mediates association of platelet-activating factor acetylhydrolase with high density lipoprotein.
Gardner A.A.; Reichert E.C.; Topham M.K.; Stafforini D.M.;
J. Biol. Chem. 283:17099-17106(2008)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; MUTAGENESIS OF HIS-367; MET-368; LEU-369 AND LYS-370; VARIANTS HIS-92; THR-198 AND ALA-379;
The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.
Kruse S.; Mao X.-Q.; Heinzmann A.; Blattmann S.; Roberts M.H.; Braun S.; Gao P.-S.; Forster J.; Kuehr J.; Hopkin J.M.; Shirakawa T.; Deichmann K.A.;
Am. J. Hum. Genet. 66:1522-1530(2000)
Cited for: VARIANTS HIS-92; THR-198 AND ALA-379; INVOLVEMENT IN ASTHMA AND ATOPY;
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.