Transcriptome level analysis in Rett syndrome using human samples from different tissues

Table 5 Displaying each RTT patient mutation used across the different studies along with the effected domain. These mutations are split into the 3 mechanisms found across the studies, abnormal dendritic arbours and synaptic maturity, mitochondrial dysfunction and glial activation

Mutation	Domain	Abnormal Dendritic Arbours and Synaptic Maturity	Mitochondrial Dysfunction	Glial Activation	Total
R106W	MBD	X	X	X	3
K135E	MBD		XX		2
P152R	MBD		X		1
T158 M	MBD	XX	XXX	X	6
D151Y	MBD			X	1
Splice site	Intronic			X	1
R168X	ID	X	X	X	3
E235fs	TRD-CTD	X	X		2
Q244X	TRD	X	X		2
P251fs	TRD	X	X	X	3
R255X	TRD-NLS	X	XX	XX	5
G268 fs	TRD-NLS		X		1
R270X	TRD-NLS	XXX	XXXXX	XXX	11
R294X	TRD	XX	XXXX	XX	8
R306C	TRD	X	XX		3
X487W	CTD	X	X		2
No Mutation Detected		XX	XX	XX	4
Total MBD		3	7	3	13
Total TDR		11	17	8	36
Total NLS		4	8	5	17
Total CTD		2	2	0	4
Total Other (ID, intronic)		1	1	2	4
Mechanism total		21	35	18

MBD Methyl Binding Domain, TRD Transcription Repression Domain, NLS Nuclear localisation Signal, C-Terminal Domain CTD and other including Intronic and splice site

ISSN: 1750-1172