DYNLT3

Chr X

dynein light chain Tctex-type 3

Also known as: RP3, TCTE1L, TCTEX1L

NCBI Gene: 6990ENSG00000165169UniProt: P51808OMIM: 300302

The protein functions as a light chain component of the cytoplasmic dynein 1 motor complex, facilitating retrograde transport of vesicles and organelles along microtubules and linking dynein to specific cargos including the spindle checkpoint protein BUB3. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in infancy with seizures and severe developmental delays. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.715), consistent with its essential role in cellular transport and mitotic progression.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.71
Clinical Summary— DYNLT3
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.72) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
55 unique Pathogenic / Likely Pathogenic· 17 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.71LOEUF
pLI 0.719
Z-score 1.90
OE 0.00 (0.00–0.71)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.12Z-score
OE missense 0.95 (0.72–1.25)
36 obs / 38.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.71)
0≤0.351.4
Missense OE0.95 (0.72–1.25)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 0 / 4.2Missense obs/exp: 36 / 38.0Syn Z: -0.73

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic53
Likely Pathogenic2
VUS17
53
Pathogenic
2
Likely Pathogenic
17
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
53
0
53
Likely Pathogenic
0
0
2
0
2
VUS
0
10
7
0
17
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total01062072

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DYNLT3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients