Charles University in Prague, First Faculty of Medicine

Adenylosuccinate Lyase Deficiency (dADSL)

 last updated: Jun 2013
Introduction Database Mutations
  Mutation
cDNA		 Mutation
protein
1.c.-49T>C  
2.c.1A>C p.M1L
3.c.1A>G p.M1V
4.c.5C>T p.A2V
5.c.7G>C p.A3P
6.c.8C>T p.A3V
7.c.69C>G p.S23R
8.? p.M26L
9.c.214A>G p.I72V
10. c.240A>C p.E80D
11. c.261T>G p.D87E
12. c.298C>G p.P100A
13. c.340T>C p.Y114H
14. c.421C>T p.R141W
15. c.445C>G p.R149G
16. c.568C>T p.R190X
17. c.569G>A p.R190Q
18. c.580C>T p.R194C
19. c.618C>A p.206-218del
20. c.643G>C p.D215H
21. c.674T>C p.M225T
22. c.725C>T p.T242I
23. c.736A>G p.K246E
24. c.774_778insG p.A260GfsX24
25. c.802G>A p.D268N
26. c.802G>C p.D268H
27. ? p.N297S
28. c.907C>T p.R303C
29. c.931C>G p.L311V
30. c.953C>T p.P318L
31. c.1009C>T p.R337X
32. c.1052T>C p.I351T
33. c.1090G>A p.V364M
34. c.1107A>C p.I369L
35. c.1120C>T p.R374W
36. c.1128G>C p.E376D
37. ? p.S395R
38. c.1186C>T p.R396C
39. c.1187G>A p.R396H
40. c.1264G>T p.D422Y
41. c.1267C>G p.L423V
42. c.1277G>A p.R426H
43. c.1288G>A p.D430N
44. c.1312T>C p.S438P
45. ? p.S447P
46. c.1342T>C p.S448P
47. c.1349C>G p.T450S
48. c.1355G>C p.R452P
49. c.1400C>G p.P467R