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. 2015 Apr 22;24(1):86–91. doi: 10.1038/ejhg.2015.70

Figure 1.

Figure 1

The identification of a mutation in MCF2L. (a) Co-segregation of the MCF2L c.2066A>G p.(Asp689Gly) variant in a small pedigree with premature CVD. Squares represent males and circles represent females. Right half-filled symbols represent cases with premature CVD. The arrow indicated the index case. Left upper forth-part-filled symbols represent heterozygous carriership of the MCF2L c.2066A>G p.(Asp689Gly) variant. The arabic number is an identifier for each individual, whereas the generation is marked with a roman number. DNA of all living 12 individuals was included in the genetic analysis. (b) Schematic overview of the gene-finding strategy. (c) DNA Sanger sequencing chromatogram showing the heterozygote c. 2066 A>G; p.(Asp689Gly) MCF2L variant. (d) Schematic overview of MCF2L (NP_001106203.2, 1125 amino acids, molecular weight approximately 128 Da), indicating the DH-domain (guanine nucleotide exchange factor) and the PH-domain (DBL's big sister). At the N-terminus, a Sec14 (Sec14p-like lipid binding domain) and Spectrin repeats (SPEC) are located. At the C-terminus, a SH3 (Src homology 3 domain of DBL's big sister) is present.