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. 2008 May 1;118(6):2121–2131. doi: 10.1172/JCI30473

Figure 7. cPLA mutations.

Figure 7

(A) cPLA cDNA sequence chromatograms identifying 3 transitions that encode heterozygous nonsynonymous amino acid substitutions (S111P, R485H, and K651R) in a patient with cPLA 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).