Modomics - A Database of RNA Modifications


NameIntellectual disability and progressive microcephaly (U:Y)
DescriptionPUS7 mutations result in decreased levels of Ψ13 modifications in tRNAs
Related RNA reactionU:Y
Found in RNAtRNA
Modified TranscripttRNA-Val
Mapping TechnologyHPLC, Primer extention
Quantification techniquesPrimer extention

Enzymes connected to Intellectual disability and progressive microcephaly:

Acronym Full name Enzyme Role Organism Comment
PUS7 Pseudouridylate synthase 7 homolog None Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
1058 PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Ranad Shaheen Hum Genet [details] 30778726 10.1007/s00439-019-01980-3