Inherited human cPLA_2α deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction
J. Clin. Invest. David H. Adler, et al. 118:2121 doi:10.1172/JCI30473 [Go to this article.]

Figure 7
cPLA_2α mutations. (A) cPLA_2α cDNA sequence chromatograms identifying 3 transitions that encode heterozygous nonsynonymous amino acid substitutions (S111P, R485H, and K651R) in a patient with cPLA_2α deficiency. The patient’s mother was only heterozygous for the S111P alleles, while his sister was heterozygous for both the R485H and K651R alleles. (B) Sequence conservation around each amino acid substitution. Amino acid sequences from human, chicken, rat, dog, mouse, frog, and zebrafish were compared. All 3 identified amino acid changes were highly conserved across species. Sequences were obtained and aligned from the NCBI BLAST database (BLAST 2 sequences (59); blastp 2.2.10; http://www.ncbi.nlm.nih.gov/blast/Blast.cgi).