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
RS956279295 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2, Inborn genetic diseases
RS956309067 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
RS986325764 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS988993094 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy 2
RS990382620 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2, Inborn genetic diseases
RS1011425121 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1039759571 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057515574 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS1057516348 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057516381 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057516739 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057516938 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057517317 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057517399 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1057518353 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1057524648 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1064794461 Health Risk Likely pathogenic —
RS1064796311 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS111288905 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS111300270 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS111833078 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS111863059 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS112450383 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS112517981 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS112544116 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS112610938 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS112687345 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS112933443 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1131691547 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy 2
RS1131691787 Health Risk Likely pathogenic —
RS113290650 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113326313 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113473971 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113525641 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS113803601 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113916636 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113925788 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1159756073 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1163709490 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1180407562 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1185654671 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Nemaline myopathy 2
RS1197561990 Health Risk Likely pathogenic Inborn genetic diseases, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1200480325 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1203257517 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1212081578 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1216517249 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1220058715 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1231521376 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1233792020 Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS1242775893 Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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