TRMT10A
Chr 4ARtRNA methyltransferase 10A
Also known as: HEL-S-88, MSSGM, MSSGM1, RG9MTD2, TRM10
This protein is an S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 in tRNAs. Biallelic mutations cause autosomal recessive microcephaly, short stature, and impaired glucose metabolism. The gene is highly tolerant to loss-of-function variation in the general population (very low pLI score).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRMT10A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools