|
Patient ID
|
Tripeptidyl Peptidase-I activityb (nmol/hr./mg protein)
|
Molecular analysis
|
Allele Frequency
|
dbSNP reference sequence
|
Reference
|
|---|
|
Variant location (TPP1 genec)
|
Zygosity
|
1000 Genomes
|
ExAC
|
|---|
|
P13
|
10.2
|
Ex8:c.1033A>C/p.M345L
|
Hetz
|
0.0030
|
0.001796
|
rs141482368
|
[22]
|
|
P14
|
4.5
|
Ex8:c.1015C>T/p.R339W
|
Hom
|
NR
|
0.00001648
|
rs750428882
|
[23]
|
|
P15
|
4.9
|
Ex8:c.1016G>A/p.R339Q
|
Hom
|
NR
|
0.000008241
|
rs765380155
|
[2]
|
|
P16
|
11.9
|
Ex12:c.1546_1547delTT/p.F516*
|
Hom
|
NR
|
NR
|
–
|
[24]
|
|
P17
|
5.4
|
Ex6:c.616C>T/p.R206C
|
Hom
|
NR
|
0.00001649
|
rs28940573
|
[25]
|
|
P18*
|
8.2
|
|
P19
|
4.7
|
|
P20
|
2.9
|
|
P21a
|
0.0
|
|
P22a
|
9.7
|
Ex6:c.622C>T/p.R208*
|
Hom
|
NR
|
0.0002
|
rs119455955
|
[26]
|
|
P23
|
6.5
|
Ex7:c.857A>G/p.N286S
|
Com Hetz
|
NR
|
NR
|
rs119455958
|
[27]
|
|
Ex3:c.184delT/p.S62Rfs*19
|
NR
|
NR
|
NR
|
In this study
|
|
P24
|
9.1
|
Ex5:c.456G>C/p.R152S
|
Hom
|
NR
|
NR
|
rs869025274
|
In this study
|
|
P25a
|
0.0
|
Ex11:c.1376A>C/p.Y459S
|
Hom
|
NR
|
NR
|
rs864309505
|
In this study
|
|
P26
|
4.6
|
|
P27a
|
0.3
|
Ex5:c.455_488del/p.S153Pfs*19
|
Hom
|
NR
|
NR
|
NR
|
In this study
|
|
P28a
|
0.0
|
Ex5:c.471C>A/p.Y157*
|
Hom
|
NR
|
NR
|
rs553522118
|
In this study
|
|
P29
|
9.2
|
Ex7:c.689_689delT/p.F230Sfs*28
|
Com Hetz
|
NR
|
NR
|
NR
|
In this study
|
|
Ex12:c.1449_1450insG/p.I484Dfs*7
|
NR
|
NR
|
NR
|
In this study
|
|
P30a
|
0.4
|
In4:g.2023_2024insT
|
Hom
|
NR
|
NR
|
NR
|
In this study
|
|
P31a
|
0.0
|
|
P32
|
3.5
|
Not found
|
–
|
–
|
–
|
–
|
–
|
|
P33
|
5.6
|
|
P34
|
8.2
|
- Abbreviations: Com Hetz Compound Heterozygous, dbSNP The Single Nucleotide Polymorphism database, ExAC The Exome Aggregation Consortium, Ex Exon, Hom Homozygous, In Intron, NR Not Reported
- aParents are found carrier for the same variant
- bTripeptidyl Peptidase-I enzyme activity normal range: 32.8–233.0 nmol/hr./mg protein
- cThe above variants refers to the TPP1 gene with transcript ID ENST00000299427.6 and reference sequence number NM_000391.3
