NEB Chromosome 2

Nebulin
2435 variants 2435 Health Risk

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What This Gene Does
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Nebulin family
Locus Type
gene with protein product
Location
2q23.3
Ensembl
ENSG00000183091
Associated Conditions (28)
Nemaline myopathy 2
Inborn genetic diseases
Nemaline myopathy
Arthrogryposis multiplex congenita 6
NEB-related disorder
Actin accumulation myopathy
Distal myopathy
Nebulin-related early-onset distal myopathy
Clear cell carcinoma of kidney
Gastric cancer
Peripheral neuropathy
Limb-girdle muscular dystrophy
Congenital structural myopathy
Progressive proximal muscle weakness
Limb pain
Muscular dystrophy
See cases
Congenital myopathy
Melanoma
Muscle weakness
+8 more conditions
Key Variants
RS1014627144
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
Health Risk
RS1015014078
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1021338595
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1023030953
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1033911248
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
Health Risk
RS1042514269
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1042667385
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1043417027
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
Health Risk
RS1051639339
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1057521174
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
RS1057521769
Conflicting classifications of pathogenicity
Health Risk
RS1057522021
Conflicting classifications of pathogenicity
Nemaline myopathy 2, Nemaline myopathy 2
Health Risk
All Variants (2435)
RSID Category Clinical Significance Conditions
RS2153991581 Health Risk Pathogenic —
RS2153992255 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154022757 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154027821 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154072959 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154073221 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154105644 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154113080 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154122471 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154134253 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154135091 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154147691 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154149251 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154149362 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154154153 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154168541 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154169021 Health Risk Pathogenic —
RS2154172582 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154172818 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154174916 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154176983 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154185591 Health Risk Pathogenic —
RS2154185721 Health Risk Pathogenic —
RS2154185730 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154190331 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154190685 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154193668 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154209597 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2154209614 Health Risk Pathogenic —
RS2154210386 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551671576 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551706848 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551707143 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726251 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726369 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551726621 Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2551726656 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551731434 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551732406 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551740587 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551741002 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551809624 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551810882 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2551811961 Health Risk Pathogenic NEB-related disorder, NEB-related disorder
RS2551841547 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551842932 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551853532 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551853918 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2551872389 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2551888897 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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