Fig. 2: Overview of RNU5A-1, RNU5B-1, RNU5E-1 and RNU5F-1 variants identified in this study. | Nature Genetics

Fig. 2: Overview of RNU5A-1, RNU5B-1, RNU5E-1 and RNU5F-1 variants identified in this study.

From: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Fig. 2: Overview of RNU5A-1, RNU5B-1, RNU5E-1 and RNU5F-1 variants identified in this study.

a, Two-dimensional predicted structure of U5 (light blue) snRNA showing distinct domains. Arrowheads indicate variants identified in this study—pink, RNU5A-1; dark blue, RNU5B-1; green, RNU5E-1 and yellow, RNU5F-1. P and LP variants are indicated with a filled color, while VUS are marked with a white dot inside the arrowheads. Numbers near the arrowheads represent the count of patients with each variant for nucleotide changes that occur more than once. Nucleotide differences between RNU5A-1, RNU5B-1, RNU5E-1 and RNU5F-1 are shown using International Union of Pure and Applied Chemistry (IUPAC) codes, except for the highly variable 3′ stem loop II, for which separate loops are displayed. Light blue numbers refer to the numbering of nucleotides from each snRNA. The N at position 79 corresponds to a gap in RNU5F-1. Blue-shaded region, critical region. Gray-shaded region, Sm site. b, The 5′ exon recognition by the U5 stem loop I at the B-complex stage (PDB ID: 8Q7N). Interactions stabilizing these structures, as well as LP/P variants potentially affecting their stability, are represented.

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