DES
Chr 2desmin
Also known as: CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DES · 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
Multicentre Study Evaluating the Efficacy of a 7-day Course of Doxycycline for the Treatment of Asymptomatic Anal Lymphogranuloma Venereum.
NOT YET RECRUITINGTesting the Addition of Nivolumab to Standard Treatment for Patients With Metastatic or Unresectable Colorectal Cancer That Have a BRAF Mutation
ACTIVE NOT RECRUITINGLong Term Outcomes After Vestibular Implantation
RECRUITINGFollow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
ACTIVE NOT RECRUITINGCompassHER2-pCR: Decreasing Chemotherapy for Breast Cancer Patients After Pre-surgery Chemo and Targeted Therapy
ACTIVE NOT RECRUITINGCHLORDECONE EXPOSURE AND PROSTATE CANCER IN THE FRENCH REGION OF MARTINIIQUE
RECRUITINGImmune Checkpoint Inhibitor Toxicity Risk Prediction in Solid Tumors
RECRUITINGVismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas
RECRUITINGTesting the Addition of a New Anti-cancer Drug, Venetoclax, to Usual Chemotherapy for High Grade B-cell Lymphomas
ACTIVE NOT RECRUITINGDose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa
ACTIVE NOT RECRUITINGHigh-Dose Interferon Alfa in Treating Patients With Stage II or Stage III Melanoma
ACTIVE NOT RECRUITINGGenotype and Subtype Mapping of the Hepatitis C Virus
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools