Table 3.

HPRT mutations in 6-TG–resistant colonies

SitecDNA changePredicted size
of protein3-150
Patients with PNH    
 2 Exon 8 Deletion of whole exon 182 amino acids  
 7 Exon 3 Base change (198T>G) 218 amino acids
(Cys66Trp) 
 Exons 2
and 6 		49-base insertion (exon 2)
62-base deletion (exon 6) 		26 amino acids  
 9 Exon 7 Deletion of whole exon 165 amino acids  
 123-151 Exon 3 202-base deletion 150 amino acids  
Patient with AT Exon 4 66-base deletion 196 amino acids  
Healthy donors    
 2 Exon 3 Base change (197G>A) 218 amino acids
(Cys66Tyr)  
 3 Exon 6 Base change (444C>T) 151 amino acids
(Gln152X) 
SitecDNA changePredicted size
of protein3-150
Patients with PNH    
 2 Exon 8 Deletion of whole exon 182 amino acids  
 7 Exon 3 Base change (198T>G) 218 amino acids
(Cys66Trp) 
 Exons 2
and 6 		49-base insertion (exon 2)
62-base deletion (exon 6) 		26 amino acids  
 9 Exon 7 Deletion of whole exon 165 amino acids  
 123-151 Exon 3 202-base deletion 150 amino acids  
Patient with AT Exon 4 66-base deletion 196 amino acids  
Healthy donors    
 2 Exon 3 Base change (197G>A) 218 amino acids
(Cys66Tyr)  
 3 Exon 6 Base change (444C>T) 151 amino acids
(Gln152X) 
F3-150

218 amino acids in healthy controls.

F3-151

Bone marrow progenitor cell colony.

View Large
Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal