Participants Enrolled in LADDER

Below you will find the number of participants who have enrolled in LADDER to date. 

Number of participants
459
With Angelman diagnosis
234
With Dup15q diagnosis
225
*Numbers represented above are current enrolled participants. More data is available for additional participants per the graph below.
Participant data (select a disorder below)
Filters
UBE3A Mutation Specify (counts)
  • c.1071T>G (p.Y357X): 2
  • c.1201C>T (p.R401X): 1
  • c.1355_1356insT (p.S453Lfs*21): 1
  • c.1358_1362delCTTTT (p.S453Yfs*19): 1
  • c.1505T>A (p.L502H): 2
  • c.1633G>A (p.G545R): 1
  • c.1634G>A (p.G545E): 1
  • c.1726_1730delTTTTG (F576Vfs*2): 1
  • c.1748T>C (p.F583S): 2
  • c.1967C>T (p.T656I): 1
  • c.2+1_2+2insAA: 2
  • c.2069T>G (p.F690C): 1
  • c.2167_2173dupTTAAAGT (Y725Ffs*11): 1
  • c.2337_2340dupAAGA (L781Kfs*43): 1
  • c.2507_2508delAA (stop codon lost): 1
  • c.2507_2508insCTTAA (p.K836Nfs*7): 2
  • c.2511_2514delGAGA (p.E837Dfs*3): 1
  • c.262_263delAT (p.I88Kfs*8): 1
  • c.2T>C (p.M1T - Initiating Met lost): 2
  • c.312_315delCTTA (p.Y104*): 1
  • c.317C>A (p.T106K): 5
  • c.62G>A (p.C21Y): 1
  • c.964C>T (p.Q322X): 1