Variant position: 575 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 749 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 NLPYPLILRPQRGVDLIISF DFSARPSDSSPPFKELLLAEK
Mouse NLPYPLILRPQRGVDLIISF DFSARPSDTSPPFKELLLAEK
Rat NLPYPLILRPQRGVDLIISF DFSARPSDTSPPFKELLLAEK
Bovine NLPYPLILRPQRGVDLIISF DFSARPSDSSPPFKELLLAEK
Rabbit NLPYPLILRPQRGVDLIISF DFSARPSDTSPPFKELLLAEK
Horse NLPYPLILRPQRGVDLIISF DFSARPSDSSPPFKELLLAEK
Chicken NLPYPLILRPQRGVDLIISF DFSARPSDSSPPFKEILLAEK
Xenopus laevis NLPYPLILRPQRGVDLIISF DFSARPSDSSPPFKELLLAEK
Xenopus tropicalis NLPYPLILRPQRGVDLIISF DFSARPSDSSPPFKELLLAEK
Zebrafish NLPYPLILRCQRGVDLIISF DFSARPSDSSPPFKELLLAEK
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 – 749 Cytosolic phospholipase A2
140 – 740 PLA2c
577 – 577 S -> A. 7-fold reduced phospholipase and lysophospholipase activities. 100-fold reduced phospholipase and lysophospholipase activities; when associated with A-195.
570 – 575
Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency.
Faioni E.M.; Razzari C.; Zulueta A.; Femia E.A.; Fenu L.; Trinchera M.; Podda G.M.; Pugliano M.; Marongiu F.; Cattaneo M.;
Thromb. Haemost. 112:1182-1189(2014)
Cited for: INVOLVEMENT IN GURDP; VARIANT GURDP HIS-575; CHARACTERIZATION OF VARIANT GURDP HIS-575; TISSUE SPECIFICITY;
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.