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Table 3 Biochemical and molecular analysis of patients with NCL2 disease

From: Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

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

  1. 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
  2. aParents are found carrier for the same variant
  3. bTripeptidyl Peptidase-I enzyme activity normal range: 32.8–233.0 nmol/hr./mg protein
  4. cThe above variants refers to the TPP1 gene with transcript ID ENST00000299427.6 and reference sequence number NM_000391.3