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
RS1553605995 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553679273 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553686994 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553695209 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553717306 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS1553762626 Health Risk Pathogenic —
RS1553862061 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS1553862114 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553862274 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS1553875421 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553896522 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553901249 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1553901624 Health Risk Pathogenic —
RS1553939806 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553964158 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559207733 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559218052 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559534672 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559580467 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559767662 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1560283028 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1560499498 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1574014358 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1574526903 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1574820458 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1574981296 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575024425 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575295628 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575300582 Health Risk Pathogenic —
RS1575305566 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575358650 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575714905 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1576286971 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576517390 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576600442 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576695735 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1576704575 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577244250 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577253760 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577548638 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577886635 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1577892185 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578007148 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578011278 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1578869371 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS191579691 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2, Nemaline myopathy
RS200731870 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS201553266 Health Risk Pathogenic Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy
RS202017360 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS202048855 Health Risk Pathogenic Inborn genetic diseases, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
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