DTYMK
Chr 2ARdeoxythymidylate kinase
Also known as: CDC8, CONPM, PP3731, TMPK, TYMK
The protein catalyzes the phosphorylation of thymidine monophosphate (dTMP) to thymidine diphosphate (dTDP), an essential step in producing DNA building blocks within mitochondria. Mutations cause autosomal recessive neurodegeneration with childhood onset and progressive microcephaly. The gene is highly tolerant to loss-of-function variants in the general population (pLI 0.00006, LOEUF 1.54).
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
184 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 | 3 | 92 | 0 | 96 |
Likely Pathogenic | 0 | 0 | 13 | 0 | 13 |
VUS | 0 | 42 | 23 | 0 | 65 |
Likely Benign | 0 | 4 | 0 | 2 | 6 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 1 | 50 | 128 | 2 | 181 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DTYMK · 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