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. Author manuscript; available in PMC: 2014 Dec 1.
Published in final edited form as: Prenat Diagn. 2013 Oct 4;33(13):1242–1247. doi: 10.1002/pd.4239

Figure 2. A novel, damaging mutation in patient #14.

Figure 2

A homozygous mutation in exon 5 of a patient (A, forward orientation) and (B, reverse orientation) with recurrent HM resulting in a C>T transition. This change was not seen in 200 control chromosomes (C and D). The c.1981C>T mutation changes a leucine to phenylalanine at amino acid position 661 in the NLRP7 transcript variant 3 which links the NAD and LRR domains (E). The leucine at this position in NLRP7 is conserved across primates and in the ancestral NLRP2 as well (F).