A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

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Figure 4.
Figure 4.

Distribution of functional coding variants across LGALSL and PKP4. The distribution of LGALSL (A) and PKP4 (B) coding variants across domains (LGALSL transcript ENST00000238875 and PKP4 transcript ENST00000389757). The y-axis corresponds to the total number of variants identified at a specific location. The blue boxes highlight the (A) LGALSL carbohydrate-binding domain and (B) PKP4 armadillo repeat domain 2 (ARM2) found to be enriched for variants in cases (green) compared to controls (black). Each domain's OE-ratio percentile is marked above for both tolerant (bright blue) and intolerant (orange) domains.

This Article

  1. Published in Advance April 2, 2019, doi: 10.1101/gr.243592.118 Genome Res. 29: 809-818

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