Identification of homozygous ZAK mutations in SFMMP. (A) Representation of genome-wide homozygosity in family F1 following SNP array genotyping with 250k arrays. Homozygosity scores with respect to the maximum LOD score of 3.5 are plotted against the physical position genome-wide. The linkage region on Chromosome 2 is indicated by the red peak; it is 9.1 Mb in size and delimited by recombinant markers rs836624 and rs6433931. (B) Schematic representation of ZAK with the missense mutation and the intragenic deletion shown in red. The ZAK protein contains a kinase domain, as well as a leucine zipper (LZ) and a sterile alpha motif (SAM) domain. Multiple protein sequence alignment; the Phe368Cys mutation site is boxed in red.
