|
Patient
|
ADAMTS-13 gene mutation
|
ADAMTS-13 gene polymorphism Protein (status)
|
ADAMTS-13 activity N >50 %
|
|---|
|
Exon/Intron number
|
Mutation (Status)
|
Protein
|
Protein
|
Non acute phase (basal)
|
|---|
|
A
|
Exon 24
|
c.3178C > T
|
p.Arg1060Trp
|
pArg7Trp (Htz)
|
5 %
|
|
(Htz)
|
heterozygous
|
pGln448Glu (Htz)
|
| | |
pPro618Ala (Htz)
|
|
pAla732Val (Htz)
|
|
pAla1033Thr (Htz)
|
|
B
|
-
|
-
|
-
|
pArg7Trp (Hm)
|
5-9 %
|
|
pGln448Glu (Hm)
|
|
pPro618Ala (Hm)
|
|
pAla732Val (Hm)
|
|
C
|
Exon 6
|
c.559G > C (Htz)
|
pAsp187His
|
-
|
<5 %
|
|
Intron 8
|
c.988-2A > C (Htz)
|
not described
|
- Deleterious polymorphism are in italic [22]
- Abbreviations: homozygous, Hm; heterozygous, Htz.
