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. Author manuscript; available in PMC: 2016 Oct 1.
Published in final edited form as: Hum Genet. 2015 Jul 28;134(10):1069–1078. doi: 10.1007/s00439-015-1586-x

Fig. 3.

Fig. 3

IFT140 missense variants identified in previous and present studies. a IFT140 protein sequence alignment between vertebrates at the loci of IFT140 missense variants identified in our studies. Nearly all variants show consistent high conservation in vertebrates. b Distribution of IFT140 missense variants identified in all the studies. Missense variants identified in JATD (red box) and MZSDS (yellow box) show a trend to be enriched in the N-terminus and WD repeat domains (orange blocks). We identified novel missense variants lying in TPR repeat domains (blue blocks) in non-syndromic RD patients (blue box). Variant position, protein and domain length were drawn in scale (color figure online)