NEB
nebulin
Summary
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]
Known Variants8,621 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2049611427 | 2:152,341,958 | G/A | — | uncertain significance |
| rs1061317 | 2:152,342,062 | A/G | — | conflicting classifications of pathogenicity |
| rs190132249 | 2:152,342,073 | T/A | — | conflicting classifications of pathogenicity |
| rs2049714734 | 2:152,342,179 | C/T | — | uncertain significance |
| rs566096042 | 2:152,342,217 | G/A | — | uncertain significance |
| rs773628949 | 2:152,342,238 | G/A | — | uncertain significance |
| rs2049766133 | 2:152,342,279 | T/C | — | uncertain significance |
| rs558019875 | 2:152,342,287 | A/G | — | conflicting classifications of pathogenicity |
| rs117861109 | 2:152,342,288 | C/T | — | conflicting classifications of pathogenicity |
| rs746382045 | 2:152,342,289 | G/A | — | likely benign |
| rs775823432 | 2:152,342,297 | C/T | — | uncertain significance |
| rs2551515612 | 2:152,342,301 | G/A | — | likely benign |
| rs776932788 | 2:152,342,309 | C/A | — | uncertain significance |
| rs3821324 | 2:152,342,310 | G/C | — | likely benign |
| rs765363580 | 2:152,342,312 | T/C | — | likely benign |
| rs2551515847 | 2:152,342,316 | G/A | — | likely benign |
| rs2152614968 | 2:152,342,317 | C/T | — | uncertain significance |
| rs751394716 | 2:152,342,318 | C/T | — | conflicting classifications of pathogenicity |
| rs1424235370 | 2:152,342,325 | C/T | — | likely benign |
| rs1574250751 | 2:152,342,328 | C/T | — | likely benign |
| rs756024407 | 2:152,342,330 | C/T | — | likely benign |
| rs1415304405 | 2:152,342,331 | A/G | — | likely benign |
| rs777246173 | 2:152,342,333 | T/C | — | uncertain significance |
| rs749003938 | 2:152,342,337 | A/G | — | benign |
| rs756659726 | 2:152,342,343 | C/T | — | uncertain significance |
| rs1206080778 | 2:152,342,344 | C/T | — | uncertain significance |
| rs1304300842 | 2:152,342,351 | C/A | — | uncertain significance |
| rs1446379302 | 2:152,342,352 | A/G | — | likely benign |
| rs1574251962 | 2:152,342,354 | C/T | — | uncertain significance |
| rs2049826815 | 2:152,342,373 | G/A | — | likely benign |
| rs2551517013 | 2:152,342,376 | G/T | — | likely benign |
| rs778502509 | 2:152,342,382 | T/C | — | likely benign |
| rs1293067674 | 2:152,342,383 | C/T | — | uncertain significance |
| rs2152618674 | 2:152,342,388 | C/T | — | likely benign |
| rs201714437 | 2:152,342,389 | T/C | — | likely benign |
| rs2152619253 | 2:152,342,400 | C/T | — | likely benign |
| rs1425045342 | 2:152,342,403 | A/G | — | likely benign |
| rs993833092 | 2:152,342,405 | C/G | — | uncertain significance |
| rs774603877 | 2:152,342,407 | G/C | — | uncertain significance |
| rs2551517443 | 2:152,342,408 | C/T | — | uncertain significance |
| rs1187437762 | 2:152,342,409 | A/G | — | likely benign |
| rs2152619643 | 2:152,342,410 | T/C | — | uncertain significance |
| rs1426472932 | 2:152,342,414 | C/A | — | likely benign |
| rs141449286 | 2:152,342,419 | A/G | — | conflicting classifications of pathogenicity |
| rs1407162161 | 2:152,342,421 | A/G | — | likely benign |
| rs1051639339 | 2:152,342,423 | A/G | — | conflicting classifications of pathogenicity |
| rs368346105 | 2:152,342,437 | C/T | — | conflicting classifications of pathogenicity |
| rs542706227 | 2:152,342,438 | G/A | — | conflicting classifications of pathogenicity |
| rs2152621085 | 2:152,342,439 | G/A | — | likely benign |
| rs1280701887 | 2:152,342,443 | A/G | — | uncertain significance |
| rs1553508368 | 2:152,342,448 | C/T | — | likely pathogenic |
| rs1222497271 | 2:152,342,450 | A/C | — | uncertain significance |
| rs1280860151 | 2:152,342,453 | C/A | — | likely benign |
| rs372113031 | 2:152,342,454 | G/A | — | likely benign |
| rs752707527 | 2:152,342,457 | G/A | — | likely benign |
| rs2049889237 | 2:152,342,458 | G/A | — | likely benign |
| rs2551518711 | 2:152,342,459 | G/T | — | likely benign |
| rs2049900730 | 2:152,342,464 | A/T | — | likely benign |
| rs2551519045 | 2:152,342,467 | A/C | — | likely benign |
| rs16830090 | 2:152,342,481 | A/G | — | benign |
| rs1247185102 | 2:152,346,471 | T/C | — | likely benign |
| rs2551642127 | 2:152,346,472 | G/A | — | likely benign |
| rs763079125 | 2:152,346,475 | A/G | — | likely benign |
| rs1553518813 | 2:152,346,483 | A/T | — | likely pathogenic |
| rs2551643451 | 2:152,346,484 | C/T | — | likely pathogenic |
| rs2152762849 | 2:152,346,493 | T/C | — | uncertain significance |
| rs13031275 | 2:152,346,494 | C/A | — | benign |
| rs376984481 | 2:152,346,499 | G/T | — | conflicting classifications of pathogenicity |
| rs1408540168 | 2:152,346,503 | A/G | — | likely benign |
| rs2054887340 | 2:152,346,512 | G/A | — | likely benign |
| rs200083849 | 2:152,346,521 | C/T | — | likely benign |
| rs78592085 | 2:152,346,522 | G/A | — | conflicting classifications of pathogenicity |
| rs1027833218 | 2:152,346,527 | C/T | — | likely benign |
| rs952273879 | 2:152,346,528 | T/C | — | uncertain significance |
| rs764892870 | 2:152,346,529 | G/A | — | uncertain significance |
| rs377748897 | 2:152,346,530 | T/G | — | conflicting classifications of pathogenicity |
| rs182699929 | 2:152,346,537 | G/A | — | conflicting classifications of pathogenicity |
| rs2551645615 | 2:152,346,539 | A/G | — | likely benign |
| rs779552151 | 2:152,346,542 | T/A | — | likely benign |
| rs965449402 | 2:152,346,545 | A/G | — | likely benign |
| rs1337253481 | 2:152,346,546 | G/A | — | likely benign |
| rs1553519124 | 2:152,346,549 | G/T | — | likely pathogenic |
| rs2152763764 | 2:152,346,551 | T/C | — | likely benign |
| rs751128054 | 2:152,346,552 | C/T | — | likely benign |
| rs200731870 | 2:152,346,553 | G/A | — | pathogenic |
| rs2152763931 | 2:152,346,556 | G/A | — | pathogenic |
| rs748525509 | 2:152,346,557 | T/C | — | likely benign |
| rs778104284 | 2:152,346,559 | G/A | — | pathogenic |
| rs1464935262 | 2:152,346,562 | G/C | — | uncertain significance |
| rs1370977464 | 2:152,346,566 | C/T | — | likely benign |
| rs966105402 | 2:152,346,581 | A/G | — | likely benign |
| rs2551647446 | 2:152,346,585 | T/C | — | uncertain significance |
| rs2551647849 | 2:152,346,593 | T/G | — | likely pathogenic |
| rs2551647938 | 2:152,346,595 | A/G | — | likely benign |
| rs1559109625 | 2:152,346,601 | A/G | — | likely benign |
| rs552439882 | 2:152,346,604 | G/C | — | likely benign |
| rs776453091 | 2:152,346,605 | G/T | — | likely benign |
| rs2551649630 | 2:152,346,606 | G/A | — | likely benign |
| rs201934608 | 2:152,346,607 | C/A | — | likely benign |
| rs2551649834 | 2:152,346,609 | A/C | — | likely benign |
Showing 100 of 8,621 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.