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
RS2552262726 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552263564 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552263990 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552264024 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552264560 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552266249 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552266252 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552266638 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552267932 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552267936 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552268567 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552268640 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269090 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269104 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269135 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269620 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269625 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269893 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552269917 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552270096 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552273388 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552273392 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552273400 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552274579 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552275065 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552275067 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279782 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552279991 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552280001 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2552280385 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552280866 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS370265998 Health Risk Pathogenic —
RS374874999 Health Risk Pathogenic Nemaline myopathy 2, NEB-related disorder, Arthrogryposis multiplex congenita 6
RS398124167 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS552379239 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS555445835 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2, Dysphagia
RS555582398 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS587780397 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS745420110 Health Risk Pathogenic —
RS746376570 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS747564597 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, NEB-related disorder
RS747946275 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS752267876 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS753192734 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS753854812 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS754272530 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS754369875 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS754700207 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS755009242 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS755390933 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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