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