Participants Enrolled in LADDER

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

Number of participants
285
With Angelman diagnosis
161
With Dup15q diagnosis
124
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