Figure 3: Mutations in FRRS1l identified as disease causing in patients with severe intellectual disability.
From: AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
(a) Pedigree (and genotypes) of the three different families detailed in the text. Affected patients are indicated by filled symbol; slashes refer to deceased individuals. (b) Schematic representation of the FRRS1l protein (as given in the UniProtKB/Swiss-Prot database) together with the alterations identified in the indicated families and alignment of the primary sequence stretch around lysine 155 (K155) across species. TM is a predicted transmembrane domain. (c) Summary of the clinical features observed in the patients from families A–C. MA denotes mental age, NA means not investigated.
