Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

Fig. 2

a Pathogenic variants in PRUNE1 identified in NMIHBA patients reported to date. The majority of pathogenic variants cluster in the DHH domain. b The amino acid residues of PRUNE1 are colored based on conservation scores by the ConSurf database. UCSC and Consurf database demonstrate evolutionary conservation in nucleotide and protein levels of the variant site, c.3G>A; p.(Met1?), respectively. c The three-dimensional structure of PRUNE1 is shown. The picture was delineated by using UCSF Chimera (v:1.15). Protein structure reveals the translation can be initiate at a downstream site at codon 183 would cause the deletion of the DHH domain

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us