| Title: |
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. |
| Authors: |
Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann‑Josef, Koch‑Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar |
| Source: |
Journal of Molecular Medicine; Dec2021, Vol. 99 Issue 12, p1769-1770, 2p |
| Subject Terms: |
MISSENSE mutation, PHENOTYPES, NEURAL development, TRANSFER RNA, CATALYTIC domains, NUCLEIC acids |
| Abstract: |
The heptapeptide sequence within this domain is critical for the cytokine activity. As a monomeric fragment, the N-terminal domain has cytokine activity and the ELR motif is critical for this activity. The heptapeptide sequence stretch critical for the cytokine activity (residues 371-377) is shown in blue. [Extracted from the article] |
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| Database: |
Complementary Index |
