NEB
Chr 2ARnebulin
Nebulin is a giant cytoskeletal protein that comprises 3-4% of myofibrillar protein in skeletal muscle sarcomeres and regulates thin filament length and muscle contraction. Mutations cause autosomal recessive nemaline myopathy and arthrogryposis multiplex congenita through a predicted gain-of-function mechanism. The protein undergoes extensive alternative splicing with tissue- and developmental stage-specific isoforms ranging from 600-800 kD.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEB · 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
Randomized Controlled Trial to Assess Blockade of Voltage Gated Sodium Channels During Surgery in Operable Breast Cancer
ACTIVE NOT RECRUITINGClinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital
RECRUITINGExternal Resources
Links to major genomics databases and tools