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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