Fig. 5: Genotype-phenotype correlation of 95 syndromic and non-syndromic patients carrying bi-allelic variants in CFAP410. | npj Genomic Medicine

Fig. 5: Genotype-phenotype correlation of 95 syndromic and non-syndromic patients carrying bi-allelic variants in CFAP410.

From: Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration

Fig. 5

For each patient, variants on alleles 1 and 2, represented as protein changes, were plotted on x and y axes. Predicted loss-of-function variants were represented as null (zero). Two larger clusters were found for cases homozygous for null alleles and for the p.Arg73Pro change, while a minor cluster included variants located in the LLRCT domain, in particular p.Tyr107His and p.Thr114_Arg117dup. Syndromic phenotype was presented in red and non-syndromic phenotype was presented in gray.

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