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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
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