Final Set of Mutations

The previous post has identified what I believe to be the CMT4 causal mutations. For the sake of being thorough, I will wrap up the genetics analysis by checking all CMT causal mutations in this one single post. It will be constantly updated until I have covered every single disease associated mutation in every single CMT causal gene. This post is going to be long, so feel free to ignore it. I'm just consolidating all of the mutations on CMT causal genes and making them public in the spirit of this blog. Note: not all of the mutations I will check cause CMT. Some mutations on CMT causal genes cause different diseases (e.g. Macular Degeneration).




Mutations In CMT Causal Genes

1. AARS
• Non Disease Mutations
1. Het - silent mutation causing misfolded mRNA
2. Hom - silent mutation
• Disease Mutations Match Reference Genome
1. Arg329His
2. DNM2
• Non Disease Mutations
1. Het - Val653Gly
• Disease Mutations Matches Reference Genome
1. Gly358Arg
2. Gly537Cys
3. ?554? DELETION
4. ?558? DELETION
5. ?561? DELETION
6. Lys562Glu
7. Leu570His
8. ?858? DELETION
3. DYNC1H1
• Non Disease Mutations
1. 1 Het Silent Mutation
• Disease Mutations Match Reference Genome
1. His306Arg
4. EGR2
• Non Disease Mutations
1. Homozygous Silent Mutation
• Disease Mutations Match Reference Genome
1. Asp355Val
2. Arg359Gln
3. Arg359Trp
4. Arg381His
5. Arg381Cys
6. Asp383Tyr
7. Asp383His
8. Arg409Trp
9. Glu412Lys
10. Gly451Val
5. FBLN5
• Non Disease Mutations
1. Het - Tyr66Asp
2. Het - Ile315Iel (Silent Mutation)
• Disease Mutations Match Reference Genome
1. Thr48Ile
2. Val60Leu
3. Arg71Gln
4. Pro87Ser
5. Gly90Ser
6. Gln124Pro
7. Iel169Thr
8. Gly202Arg
9. Cys217Arg
10. Ser227Pro
11. Gly267Ser
12. Arg284X
13. Leu301Met
14. Arg351Trp
15. Ala363Thr
16. Arg373Cys
17. Gly412Glu
6. FGD4
1. Non Disease Mutations
1. NONE
2. Disease Mutations Match Reference Genome
1. Arg224X
2. Arg275X
3. Met298Thr
4. ?542? DELETION
5. Gly586X
7. FIG4
1. Non Disease Mutations
1. None
2. DiseaseMutations Match Reference Genome / INCOMPLETE COVERAGE
1. Leu17Pro
2. Ile41Thr
3. Asp48Gly
4. Asp53Tyr
5. ?97? DELETION
6. Arg183X
7. ?252? DELETION
8. ?262? DELETION/INSERTION
9. ?276? DELETION
10. Glu302Lys
11. ?347? DELETION
12. Arg381X
13. ?382? DELETION
14. Arg388Gly
15. Gln403X
16. Ile411Val
17. ?457? INSERTION
18. ?555? INSERTION
19. Lys559X
20. Tyr647Cys
21. ?662? INSERTION
22. Gln823X
23. Arg899X NO COVERAGE -- Causes CMT4J
24. Ile902Thr NO COVERAGE -- Causes Amyotrophic Lateral Sclerosis
8. GARS
1. Non Disease Mutations
1. Multiple in non-coding regions and one single base deletion past the stop codon
2. Disease Mutations  Match Reference Genome / INCOMPLETE COVERAGE
1. Ala57Val
2. Glu71Gly INCOMPLETE COVERAGE CMT2D
3. Leu129Pro
4. Gly240Arg
5. Pro244Leu
6. Ile280Phe
7. His418Arg
8. Asp500Asn
9. Gly526Arg
10. Ser581Leu
11. Gly598Ala
9. GDAP1
1. Non-Disease Mutations
1. Ser169Ser SILENT MUTATION (TCT-->TCG)
2. Disease Mutations
1. ?7? DELETION
2. Trp31X
3. Ser34Cys  Has Ser34Ser silent mutation (TCG -> TCC)
4. ?57? DELETION
5. Pro78Leu
6. Gln99X
7. Pro111His
8. ?113? DELETION
9. Met116Thr
10. Met116Arg
11. ?116? INSERTION
12. Arg120Gln
13. Arg120Trp
14. Gln122Lys
15. His123Arg
16. Arg125X
17. Ser130Cys
18. ?146? DELETION
19. Asp149Tyr
20. Pro153Leu
21. Ala156Gly
22. Thr157Pro
23. Arg161His
24. Gln163X
25. Asn178Ser
26. ?185? DELETION
27. Arg191X
28. Ser194X
29. Gln218Glu
30. Val219Gly
31. Val219Asp
32. Leu223X
33. Arg226Ser
34. Asn227Asp
35. Pro231Leu
36. Gln235X
37. Leu239Phe
38. Cys240Tyr
39. Ala247Val
40. His256Arg
41. Arg257X
42. ?261? DELETION
43. Gly271Arg
44. Arg273Gly
45. Pro274Leu
46. Tyr279Cys
47. Arg282Cys
48. Arg282His
49. ?287? INSERTION
50. Asn297Lys
51. Arg310Gln
52. Gly327Asp