Fig. 1: Family pedigrees, variant schematic on gene and protein level and amino acid conservation of AIRIM substitutions.
From: A programmed decline in ribosome levels governs human early neurodevelopment
a, Pedigrees showing segregation of the variants. Affected and unaffected individuals are indicated by filled and open and filled symbols, respectively. Probands are marked with arrows. Double lines indicate consanguinity. Red asterisks represent a nonhomozygous genotype. Segregation results are shown by the presence of a red minus symbol for the variant or a black plus symbol representing the reference allele, where −/− and +/+ represent a homozygous variant or wild-type genotype, respectively, and +/− represents a heterozygous genotype. b, Schematic representation of the gene and protein positions of AIRIM variants. AIRIM is located on chromosome 1 at cytogenetic position p34.3 (top). Below: the genetic variants are mapped to the NM_017850.3 transcript of AIRIM. c, AIRIM variants shown on the protein level. The casein kinase II substrate (CK2S) region is shown in maroon with the corresponding amino acid coordinates of the protein and domain in blue (top). Variants are labelled by family codes. Alignment of multiple AIRIM orthologues with amino acid substitutions marked with arrows (bottom).
