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. 2014 Jan 2;94(1):80–86. doi: 10.1016/j.ajhg.2013.11.015

Figure 1.

Figure 1

CSPP1 Is Recurrently Mutated in JBTS

(A) Whole-exome sequencing results summarized for 287 unique probands indicate genes demonstrating evidence of mutations. The most commonly mutated genes were CEP290, C5orf42, and AHI1. Six unique probands displayed mutations in CSPP1 (light green). In more than half of affected individuals, a causative mutation could not be identified.

(B) CSPP1 mutation locations relative to the genomic exon locations in hg19. Compound-heterozygous mutations are shown on the top, and homozygous mutations are shown on the bottom.

(C) CSPP1 alteration locations relative to the predicted protein. Blocks represent coiled-coil domains, green indicates the nuclear localization signal, and asterisks indicate predicted phosphorylation sites.