DPH3
Chr 3diphthamide biosynthesis 3
Also known as: DELGIP, DELGIP1, DESR1, DPH3A, KTI11, ZCSL2
The protein encoded by this gene is required for diphthamide biosynthesis, acting as an electron donor to maintain iron-sulfur clusters in the DPH1-DPH2 complex during post-translational modification of elongation factor 2, and also associates with the elongator complex for tRNA wobble base modifications. Mutations cause autosomal recessive intellectual disability with distinctive facial features and growth retardation. The gene shows tolerance to loss-of-function variants (pLI 0.07, LOEUF 1.52), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
44 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 12 | 2 | 0 | 14 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 12 | 27 | 0 | 39 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DPH3 · 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