TYW3

Chr 1

tRNA-yW synthesizing protein 3 homolog

Also known as: C1orf171

NCBI Gene: 127253 ENSG00000162623 UniProt: Q6IPR3 OMIM: 611245

TYW3 encodes a methyltransferase that synthesizes wybutosine, a hypermodified guanosine in phenylalanine tRNA that stabilizes codon-anticodon interactions during ribosomal protein synthesis. Mutations cause autosomal recessive intellectual disability with microcephaly, short stature, and facial dysmorphism. The gene shows moderate tolerance to loss-of-function variants with a LOEUF score of 1.055.

OMIM ResearchSummary from RefSeq, UniProt

Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.05

LOEUF

Mechanism· predicted