PRMT7
Chr 16ARprotein arginine methyltransferase 7
Also known as: SBIDDS
The protein arginine methyltransferase PRMT7 transfers methyl groups to arginine residues on histones and other proteins, mediating gene regulation, small nuclear ribonucleoprotein assembly, and genomic imprinting processes. Mutations cause syndromic intellectual disability with short stature and additional developmental features, inherited in an autosomal recessive pattern. This gene shows extremely high constraint against loss-of-function variants, indicating that complete loss of function is likely incompatible with survival.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRMT7 · 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
External Resources
Links to major genomics databases and tools