METTL16
Chr 17methyltransferase 16, RNA N6-adenosine
Also known as: METT10D
METTL16 encodes an RNA N6-methyltransferase that methylates specific adenosine residues in mRNAs and U6 small nuclear RNAs, playing a critical role in S-adenosyl-L-methionine homeostasis by regulating MAT2A transcript expression. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures, typically presenting in infancy or early childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.405), indicating that complete loss of protein function is poorly tolerated.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
148 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 62 | 0 | 62 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 47 | 17 | 0 | 64 |
Likely Benign | 0 | 3 | 2 | 1 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 50 | 87 | 1 | 138 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
METTL16 · 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