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Table 2 Biochemical and molecular analysis of adult patients with type I Gaucher disease

From: Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Patient ID Biochemical analysis Molecular analysis Allele Frequency dbSNP reference sequence Reference
Plasma Chitotriosidase (nmol/hr/ml plasma) β-Glucosidase (nmol/hr/mg protein) Variant location (GBA gene) Nucleotide change (Amino Acid change) Zygosity 1000 Genomes ExAC
P1 54,503.7 2.5# Exon 10 c.1448T>C
(Leu444Pro)
Het 0.0034 0.0031 rs421016 [18]
Exon 8 c.1102C>T
(Arg329Cys)
Het NR 0.00002472 rs374306700 [18]
P2 72,000.0 1.2# Exon 10 c.1459G>A (Ala448Thr) Hom NR NR rs878853317 In this study
P3 0.0 1.2# Exon 10 c.1459G>A (Ala448Thr) Hom NR NR rs878853317 In this study
P4 14,378.0 0.24# Exon 8 c.1060G>A (Asp315Asn) Hom NR 0.000008243 rs398123526 [24]
P5 1670.0 3.5 Exon 10 c.1448T>C (Leu444Pro) Het 0.0034 0.0031 rs421016 [18]
Exon 3 c.167T>G (Val17Gly) Het NR NR rs878853318 In this study
P6 102.4 4.65 Exon 10 c.1459G>A (Ala448Thr) Het NR NR rs878853317 In this study
Exon 5 c.492C>G (Ser125Arg) Het NR 0.00003295 [24]
P7 54,503.7 1.5# Exon 9 c.1300C>T (Arg395Cys) Hom NR NR [18]
  1. Abbreviations: The Single Nucleotide Polymorphism database (dbSNP), The Exome Aggregation Consortium (ExAC), Heterozygous (Het), Homozygous (Hom), Not Reported (NR)
  2. Plasma Chitotriosidase normal range: 28.66–62.94 nmol/hr/ml plasma
  3. #β-Glucosidase enzyme activity done at our center (normal range: 4.0–32.0 nmol/hr/mg protein)
  4. β-Glucosidase enzyme activity done at other centers (normal range: 10.0–45.0 nmol/hr/mg protein)
  5. The above variants refers to the GBA gene with transcript ID ENST00000327247.5 and reference sequence number NM_001005741.2