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
RS10172023 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1035343199 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1037388276 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057515575 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057517360 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1064795894 Health Risk Pathogenic —
RS113091511 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1162553327 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1174344987 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1176407542 Health Risk Pathogenic Nemaline myopathy 2, NEB-related disorder, Nemaline myopathy 2
RS1189557869 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1207279110 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1263815921 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1265163979 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1266535163 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1290121054 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS1326513178 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1327247430 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1335300113 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1336053002 Health Risk Pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1340834766 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1356997734 Health Risk Pathogenic —
RS1362599473 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1369239753 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1371849916 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS1375183081 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1390379576 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1391372707 Health Risk Pathogenic —
RS1392500142 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1425369800 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1427371913 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1440532058 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1442158854 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1449776440 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1463906422 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS1475648900 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS1483606765 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1486623736 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553469514 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS1553472127 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553502168 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553526884 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553545126 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553548207 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1553551595 Health Risk Pathogenic —
RS1553556154 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553558398 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553601066 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1553603437 Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1553603690 Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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