Patient
|
Diagnosis
|
Mutation type
|
Exon/IVS
|
Domain affected
|
Nucleotide change
|
Amino acid change
|
CpG hotspot
|
X chromosome inactivation
|
Reference
|
CG1295 | RTT | Missense | 2 | MBD | 390C→T | R106W | + | 66:34 |
7,8
|
CMC52 | RTT | Nonsense | 3 | TRD | 576C→T | R168X | + | 79:21 |
7,8
|
PWH23 | RTT | Nonsense | 3 | TRD | 954C→T | R294X | + | Not informative |
14 |
PMH65 | RTT | Deletion |
3
| Poly-Pro domain | 1231del41 | P389X | − | Not informative | This report |
PWH44 | RTT | Indel | 3 | TRD | 824delCins11 | P261X | − | 73:27 | This report |
PWH24 | RTT | Indel | 3 | Poly-Pro & His domains | 1118del131insTG | [E348V, S349-P391del43] | − | 50:50 | This report |
PWHA34 | Infantile autism | Splicing | IVS2 | Donor splice junction | IVS+2delTAAG | Unknown | − | Not informative | This report |