Figure 2.

Biallelic variants in LSM7

(A) Genomic organization of LSM7 in humans (UCSC Genome Browser hg19) with the position of the pathogenic variants within the LSM7 gDNA indicated.

(B) Major motifs of the 103 amino acid LSM7 protein with position of variants indicated.

(C) LSM7 variants in affected individuals are at conserved amino acid residues.

(D) LSM7 gene sequencing of affected individual 1 and parents.

(E and F) 3D representations (created with PyMOL) of yeast (E) Lsm1-7 and (F) Lsm2-8 complexes displaying location of variants.