Skip to main content
. 2012 Jun 5;7(6):e38456. doi: 10.1371/journal.pone.0038456

Figure 1. Pedigree showing two heterozygous mutations (Pro282Arg and Tyr323Cys) in the gene encoding hGNRHR1 (NM_000406.2; NP_000397.1).

Figure 1

A C-to-G transversion at cDNA nucleotide 845 (c.845C>G) and a A-to-G transition at cDNA nucleotide position 968 (c.968A>G) leading to a substitution of Proline at residue 282 for Arginine (p.282P>R) and a substitution of Tyrosine at residue 323 for Cysteine (p.323Y>C). Upper panel: Heterozygous Tyr323Cys and wild type allele in unaffected father (I-1); Heterozygous Pro282Arg and wild type allele in unaffected mother (I-2); Bottom panel: Homozygous wild type alleles in an unaffected sister (II-2); Compound heterozygous Pro282Arg and Tyr323Cys brothers (II-1, II-3) and proband (II-4 arrowed).