Participants Enrolled in LADDER
Below you will find the number of participants who have enrolled in LADDER to date.
Number of participants
285With Angelman diagnosis
161With Dup15q diagnosis
124Participant data (select a disorder below)
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