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Table 2 Biochemical and molecular alalysis of patients with NCL1 disease

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

Patient ID Palmitoyl protein thioesterase activityb (nmol/hr./mg protein) Molecular analysis Allele Frequency dbSNP reference sequence Reference
Variant location (PPT1 genec) Zygosity 1000 Genomes ExAC
P1 0.0 Ex6:c.541G>A/p.V181M Hom NR 0.0001648 rs148412181 [19]
P2 3.6 Ex3:c.329A>G/p.N110S Hom NR 0.0001813 rs142894102 [20]
P3 3.6 Ex6:c.558G>A/p.W186 Com Hetz NR 0.000008237 rs386833656 [21]
Ex5:c.532_532delG/p.E178Nfs*13 NR NR rs878853325 In this study
P4 3.1 Ex7:c.713C>T/p.P238L Hom NR NR rs878853322 In this study
P5a 0.01
P6 0.72
P7 1.07
P8 7.3 Ex2:c.133T>C/p.C45R Hom NR NR rs878853323 In this study
P9 0.36 Ex7:c.707T>A/p.V236G Hom NR NR rs878853324 In this study
P10 5.2 Not found
P11 7.4
P12 3.1
  1. Abbreviations: Com Hetz Compound Heterozygous, dbSNP The Single Nucleotide Polymorphism database, ExAC The Exome Aggregation Consortium, Ex Exon, Hom Homozygous, NR Not Reported
  2. a Parents are found carrier for the same variant
  3. bPalmitoyl protein thioesterase enzyme activity normal range: 25.5–215 nmol/hr./mg protein
  4. cThe above variants refers to the PPT1 gene with transcript ID ENST00000642050.1 and reference sequence number NM_000310.3