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. 2015 Dec 31;25(5):878–891. doi: 10.1093/hmg/ddv617

Figure 3.

Figure 3.

The Ile489Phe mutation is located in the C2 domain of PLCZ1. (A) Schematic representation of the exomic structure of human PLCZ1 cDNA sequence and corresponding functional domains of PLCZ1 (http://www.uniprot.org/uniprot/Q86YW0). The first coding exon is exon 2 (exon sizes are not to scale). The mutation c.1465A>T; p.Ile489Phe (NM_033123.3) is located in exon 13 and changes Isoleucine 489 located in the C2 domain into a phenylalanine. (B) The presence of the identified variation c.1465A>T; p.Ile489Phe (NM_033123.3) was verified by Sanger sequencing of PLCZ1 exon 13. Electropherogram of PLCZ1 exon 13 showing the mutated sequence and sequence obtained from a control individual. The two infertile brothers carried a homozygous missense mutation (p.Ile489Phe) in PLCZ1 exon 13 whereas the fertile brother harbors the mutation in a heterozygous state. (C) The mutation is located in a cluster of 15 highly conserved amino acids.