LADDER Participants

Number of participants
181
With Angelman diagnosis
102
With Dup15q diagnosis
79
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