ACTN1

actinin alpha 1

Summary

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants351 total

rsidPosition (GRCh37)AllelesClassClinVar
rs147503414:69,340,760G/Tdownstream gene variant—
rs19264053614:69,341,593C/G—likely pathogenic
rs75910386314:69,341,594G/A—likely benign
rs250303492714:69,341,595T/C—uncertain significance
rs75236832414:69,341,616A/G—uncertain significance
rs78110832614:69,341,638C/T—uncertain significance
rs14702372914:69,341,650C/A—uncertain significance
rs76306653514:69,341,651G/A—benign
rs1155776914:69,341,653T/A—benign
rs7749900714:69,341,658G/A—benign
rs76938994714:69,341,661G/T—uncertain significance
rs75758509114:69,341,662C/T—conflicting classifications of pathogenicity
rs137101572714:69,341,663C/T—uncertain significance
rs19990101514:69,341,670G/A—uncertain significance
rs138174042214:69,341,681C/G—uncertain significance
rs20034693814:69,341,695G/A—uncertain significance
rs126717209214:69,341,696T/C—likely benign
rs14834456714:69,341,707G/A—conflicting classifications of pathogenicity
rs76810541914:69,341,708G/A—benign
rs37144098514:69,341,709C/T—conflicting classifications of pathogenicity
rs54720420914:69,341,710G/A—uncertain significance
rs203070797714:69,341,716C/T—uncertain significance
rs250304114214:69,341,718T/C—uncertain significance
rs19970779414:69,341,719C/T—uncertain significance
rs75871457014:69,341,732G/T—uncertain significance
rs142447801214:69,341,738C/T—likely benign
rs75235259814:69,341,760G/A—uncertain significance
rs4128548014:69,341,906A/G—benign
rs207027814:69,341,912A/G—benign
rs7521998414:69,343,704G/A—benign
rs132363079514:69,343,781C/A—likely benign
rs122945040714:69,343,834C/T—likely pathogenic
rs77459967814:69,343,856G/A—likely benign
rs14153982314:69,343,865G/A—benign
rs128959804014:69,343,866C/T—uncertain significance
rs75072572214:69,343,881A/T—uncertain significance
rs250308963314:69,343,882T/C—uncertain significance
rs94015931514:69,343,903C/T—uncertain significance
rs20119395514:69,343,911C/T—uncertain significance
rs103715409114:69,343,912G/A—uncertain significance
rs77720690114:69,343,914T/C—uncertain significance
rs76944040414:69,343,941G/A—uncertain significance
rs250309228014:69,343,954C/T—uncertain significance
rs7328303814:69,344,969G/A—benign
rs75581670514:69,345,169C/T—uncertain significance
rs77337269114:69,345,206C/T—uncertain significance
rs37695457514:69,345,218G/A—uncertain significance
rs76563517914:69,345,234T/C—uncertain significance
rs133980966514:69,345,238C/T—uncertain significance
rs77582641914:69,345,245G/C—likely benign
rs54197391814:69,345,260C/A—likely benign
rs1258659114:69,345,647T/C—benign
rs214005871114:69,345,725T/C—uncertain significance
rs100224611814:69,345,727A/G—likely benign
rs250313631814:69,345,731C/T—uncertain significance
rs125810817814:69,345,762C/T—uncertain significance
rs76821642914:69,345,763G/A—benign
rs156658850214:69,345,765G/T—uncertain significance
rs147133546414:69,345,777C/T—uncertain significance
rs11197281914:69,345,797G/A—likely benign
rs250313772514:69,345,803C/T—likely benign
rs20014836814:69,346,660C/G—likely benign
rs4128654414:69,346,662A/C—benign
rs75770426714:69,346,680C/T—uncertain significance
rs250315626714:69,346,691G/A—likely benign
rs159475162714:69,346,692T/C—uncertain significance
rs38790734714:69,346,704C/Tmissense variantpathogenic
rs250315663114:69,346,707A/G—uncertain significance
rs159475165914:69,346,716A/T—conflicting classifications of pathogenicity
rs74775101914:69,346,720G/C—uncertain significance
rs250315691814:69,346,731A/G—uncertain significance
rs250315701814:69,346,734C/A—likely pathogenic
rs102961881914:69,346,736C/T—likely benign
rs214006787114:69,346,746C/T—conflicting classifications of pathogenicity
rs38790734914:69,346,747G/Amissense variantpathogenic
rs95527216614:69,346,748G/A—likely benign
rs159475171214:69,346,750T/C—uncertain significance
rs155534328414:69,346,758T/C—conflicting classifications of pathogenicity
rs250315769514:69,346,759G/T—uncertain significance
rs75954896614:69,346,773T/C—uncertain significance
rs214006826314:69,346,783T/C—uncertain significance
rs13985206914:69,346,793G/A—likely benign
rs159475182514:69,346,802C/G—no classification for the single variant
rs159475183114:69,346,803T/G—no classification for the single variant
rs250315948214:69,346,817A/G—likely benign
rs138379201714:69,346,818C/T—conflicting classifications of pathogenicity
rs91355448014:69,346,819G/C—uncertain significance
rs20122478914:69,346,834C/T—benign
rs20050475814:69,346,835G/A—likely benign
rs7849097414:69,346,924C/T—benign
rs18828439614:69,347,534G/A—uncertain significance
rs119966802014:69,347,545G/A—likely benign
rs75112319214:69,347,552T/C—likely benign
rs74565022314:69,347,566C/T—likely benign
rs250317736114:69,347,584G/A—likely benign
rs14164327514:69,347,590G/A—benign
rs140865045814:69,347,605A/C—uncertain significance
rs117592100214:69,347,618T/C—uncertain significance
rs76676872914:69,347,630C/T—uncertain significance
rs3603981214:69,347,632T/C—benign

Showing 100 of 351 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.