METTL13
Chr 1ADmethyltransferase 13, eEF1A N-terminus and K55
Also known as: 5630401D24Rik, CGI-01, DFNB26, DFNB26M, DFNM1, EEF1AKNMT, KIAA0859, feat
Primary Disease Associations & Inheritance
{?Deafness, autosomal recessive 26, modifier of}MIM #605429
AD
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.04
OE 0.61 (0.42–0.89)
Typical tolerance to LoF variation
Missense Constraint?
1.04Z-score
OE missense 0.86 (0.78–0.93)
350 obs / 409.3 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.61 (0.42–0.89)
0≤0.351.4
Missense OE?0.86 (0.78–0.93)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 19 / 31.3Missense obs/exp: 350 / 409.3Syn Z: -0.33
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
METTL13 · 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