NSUN6
Chr 10ARNOP2/Sun RNA methyltransferase 6
Also known as: 4933414E04Rik, ARL5B-AS1, MRT82, NOPD1
This gene encodes a cytoplasmic S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates cytosine at position 72 in specific tRNAs including tRNA(Thr) and tRNA(Cys). Biallelic mutations cause autosomal recessive intellectual developmental disorder 82. The gene appears tolerant to loss-of-function variants in the general population (LOEUF 1.479), suggesting that complete loss of function may require biallelic mutations to cause disease.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
136 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 | 1 | 1 | 13 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 78 | 13 | 0 | 92 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 2 | 82 | 28 | 0 | 112 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NSUN6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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