UTRN

utrophin

Summary

This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]

Known Variants327 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24731316:144,612,669G/T—benign
rs170735716:144,612,964G/A—benign
rs5926676:144,613,337C/T—benign
rs48967116:144,619,170G/Tregulatory region variant—
rs5367951666:144,620,996T/G——
rs1120794336:144,688,391G/Cintron variant—
rs9307507536:144,724,259A/G—uncertain significance
rs7697849376:144,743,038A/G—uncertain significance
rs1442231666:144,743,040G/A—uncertain significance
rs7629870236:144,743,045C/T—uncertain significance
rs3716182536:144,744,752A/T—uncertain significance
rs7645626496:144,745,150A/G—uncertain significance
rs17850848916:144,745,171A/G—uncertain significance
rs15542496796:144,745,217G/A—likely benign
rs25346237246:144,747,483C/G—uncertain significance
rs1406124676:144,747,508C/G—uncertain significance
rs1403825436:144,747,589G/A—uncertain significance
rs5362479866:144,749,920T/A—uncertain significance
rs3750772266:144,749,969G/A—uncertain significance
rs1140532106:144,750,022T/C—benign
rs1490222706:144,750,725G/A—uncertain significance
rs7657044546:144,750,812C/T—uncertain significance
rs5659681976:144,750,857G/A—uncertain significance
rs1470847966:144,750,873T/C—uncertain significance
rs117557336:144,751,070A/G—benign
rs94035626:144,756,866A/C—benign
rs41299656:144,757,179C/A—uncertain significance
rs13225895526:144,757,236G/A—uncertain significance
rs25346969796:144,757,251A/G—uncertain significance
rs7514021596:144,758,727C/G—uncertain significance
rs5499663106:144,758,746G/A—uncertain significance
rs48956426:144,758,799A/G—benign
rs14054011866:144,758,827C/G—uncertain significance
rs7475277816:144,758,864G/A—uncertain significance
rs73837496:144,759,129A/G—benign
rs7536688456:144,759,957C/T—uncertain significance
rs5453757346:144,759,981C/T—uncertain significance
rs42824256:144,761,383G/A—benign
rs46090446:144,761,429G/A—benign
rs1426215336:144,761,542A/C—conflicting classifications of pathogenicity
rs763147756:144,765,406C/T—benign
rs3745238496:144,765,447C/T—uncertain significance
rs7518138766:144,765,456G/C—uncertain significance
rs1477799756:144,765,462C/T—uncertain significance
rs25347747156:144,768,352G/T—uncertain significance
rs1812316926:144,768,444G/A—uncertain significance
rs2008454086:144,768,755G/A—uncertain significance
rs11594375626:144,768,801G/A—uncertain significance
rs65706326:144,769,103A/G—benign
rs2009760416:144,769,786C/A—uncertain significance
rs5349276046:144,769,787C/A—uncertain significance
rs2014231236:144,769,820A/G—uncertain significance
rs7672729596:144,769,824C/G—uncertain significance
rs7647712406:144,769,853C/A—uncertain significance
rs13604086606:144,772,511A/G—uncertain significance
rs14469284996:144,772,558G/A—uncertain significance
rs25348004626:144,772,563T/G—uncertain significance
rs25348006266:144,772,596G/T—uncertain significance
rs17882941926:144,772,597C/G—uncertain significance
rs1161984706:144,772,825T/G—benign
rs1432193276:144,774,914G/T—benign
rs2014816576:144,774,931A/C—uncertain significance
rs5528880656:144,779,920G/A—uncertain significance
rs25348403366:144,779,926A/G—uncertain significance
rs1415982536:144,779,932A/C—uncertain significance
rs344811846:144,779,958A/G—benign
rs5414495166:144,779,995A/G—uncertain significance
rs9913470386:144,780,070A/G—uncertain significance
rs7781787306:144,780,092C/T—uncertain significance
rs1460793566:144,780,112C/T—likely benign
rs1450265416:144,780,310C/T—uncertain significance
rs1486859256:144,780,322A/C—conflicting classifications of pathogenicity
rs7731395186:144,780,434G/A—uncertain significance
rs346435166:144,780,437G/A—likely benign
rs1152731716:144,780,470G/A—uncertain significance
rs1450417696:144,780,479A/G—uncertain significance
rs11398366:144,782,371T/C—benign
rs25348530906:144,782,399A/T—uncertain significance
rs1148008976:144,782,462C/T—likely benign
rs12681189306:144,783,839C/G—uncertain significance
rs8878227126:144,783,848C/T—uncertain significance
rs7692995126:144,783,861G/C—uncertain significance
rs42592696:144,794,785C/T—benign
rs14809260336:144,794,856G/A—uncertain significance
rs1126226566:144,794,928G/A—likely benign
rs7486717736:144,794,937G/A—likely benign
rs7627363786:144,794,941G/A—likely benign
rs15849321236:144,794,978T/G—likely benign
rs3686427826:144,795,776C/G—uncertain significance
rs7686524776:144,795,779A/G—uncertain significance
rs10097797796:144,795,798A/G—uncertain significance
rs25349323026:144,795,815G/A—uncertain significance
rs25349323806:144,795,842G/T—uncertain significance
rs7803251176:144,795,882A/C—uncertain significance
rs7687793176:144,795,890A/G—uncertain significance
rs737805886:144,796,045A/G—benign
rs69089116:144,800,696G/T—benign
rs1483218726:144,800,952C/T—uncertain significance
rs7602350656:144,800,994C/T—likely benign
rs25349615636:144,801,009A/G—uncertain significance

Showing 100 of 327 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.