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Table 2 Molecular analysis of the patients with Gaucher disease

From: Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Patient ID Variant location (GBA1 geneb) Zygosity Allele frequency dbSNP reference number
1000 Genomes ExAC
P1-P51 Ex11:c.1448T>C/p.L483P Hom 0.0034 0.0031 rs421016
P52 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex5:c.407C>T/p.S136 La NR NR rs878853316
P53 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex4:c.167T>G/p.V56G NR NR rs878853318
P54 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex10:c.1363A>G/p.M455 V NR NR NR
P55 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex7:c.656C>T/p.T219I NR NR NR
P56-P57 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex12:c.1603C>T/p.R535C NR 0.00004357 rs747506979
P58-P59 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex5:c.371T>G/p.M124R NR 0.000008237 NR
P60 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex10:c.1255G>C/p.D419H NR NR NR
P61-P62 Ex11:c.1448T>C/p.L483P Com Hetz 0.0034 0.0031 rs421016
Ex11:RecNcil
P63-P64 Ex12:c.1603C>T/p.R535C Hom NR 0.00004357 rs747506979
P65 Ex12:c.1603C>T/p.R535C Com Hetz NR 0.00004357 rs747506979
Ex6,7:Complex C
P66-P67 Ex11:c.1504C>T/p.R502C Hom NR 0.00006 rs80356771
P68-P70 Ex11:c.1459G>A/p.A487T Hom NR NR rs878853317
P71 Ex6:c.492C>G/p.S164R Com Hetz NR 0.00003295 NR
Ex4:c.254G>A/p.G85E NR 0.000008 rs77829017
P72 Ex4:c.254G>A/p.G85E Com Hetz NR 0.000008 rs77829017
Ex11:RecNcil
P73-P74 Ex7:c.754T>A/p.F252I Hom NR 0.00002 rs381737
P75-P76 Ex9:c.1195G>C/p.G399Ra Com Hetz NR NR NR
Ex12:c.1603C>T/ p.R535C NR 0.00004357 rs747506979
P77 Ex7:c.721G>A/p.G241R Hom NR NR rs409652
P78 Ex10:c.1342G>C/p.D448H Hom NR 0.0001 rs1064651
P79−P80 Ex8:c.827C>T/p.S276F Hom NR 0.00000837 NR
P81 Ex9:c.1060G>A/p.D354N Hom NR 0.000008 rs398123526
P82 Ex8:c.776A>G/p.Y259C Hom NR NR NR
P83 Ex5:c.415G>C/p.A139P Hom NR NR rs878853314
P84 Ex9:c.1177C>G/p.L393 V Hom NR NR rs878853315
P85 Ex7:c.721G>C/p.G241R Hom NR NR NR
P86 Ex4:c.260G>A/p.R87Q Hom NR NR rs78769774
P87 Ex8:c.835C>G/p.L279 V Hom NR NR NR
P88 In1:g.3548A>G/g.3548A > G Com Hetz 0.0078 NR rs18897815
Ex11:RecNcil
P89 Ex4:c.259C>T/p.R87W Com Hetz NR 0.00002 rs1141814
Ex11:RecNcil
P90 Ex9:c.1148G>A/p.G383D Com Hetz NR NR NR
Ex11:RecNcil
P91 Ex6:c.475C>T/p.R159W Com Hetz NR NR rs439898
Ex11:RecNcil
P92 Ex7:c.680A>G/p.N227S Com Hetz 0.0002 0.00007 rs364897
Ex6,7:Complex C
P93 Ex8:c.887G>A/p.R296Q Com Hetz NR 0.00003 rs78973108
Ex6,7:Complex C
P94 Patients’DNA is not available Mother- Ex11:c.1448T> C/p.L483P Father- Ex11:c.1448T> C/p.L483P Single Hetz 0.0034 0.0031 rs421016
P95 Patients’ DNA is not available Mother- Ex11:c.1448T>C/p.L483P Single Hetz 0.0034 0.0031 rs421016
Father- Ex4:c.242G>A/p.S81 N NR NR NR
P96 Patients’ DNA is not available Mother- Ex6:c.475C>T/p.R159W Single Hetz NR NR rs439898
Father- Ex11:c.1448T>C/p.L483P 0.0034 0.0031 rs421016
P97 Patients’ DNA is not available Mother- Ex6,7:Complex C Father- Ex6,7:Complex C Single Hetz
P98 Mutation not found NA NA NA NA
P99 Mutation not found NA NA NA NA
P100 No amplification from Exon 1 to Exon 7 NA NA NA NA
  1. Abbreviations: Com Hetz Compound Heterozygous, dbSNP The Single Nucleotide Polymorphism database, ExAC The Exome Aggregation Consortium, Ex Exon, Homozygous (Hom), NR Not Reported
  2. RecNcil: [c.1448T>C (p.L483P), c.1483G>C (p.A495P), c.1497G>C (p.V499 V)]]
  3. Complex C: [c.475C>T (p.R159W), c.667T>C (p. W223R), c.681T>G (p.N227K), c.689 T>G (p.V230G), c.703T>C (p.S235P), c.721G>A (p.G241R), c.754T>A (p.F252I)]
  4. aNovel variants identified in the given study
  5. bThe above variants refers to the GBA1 gene with transcript ID ENST00000327247.5 and reference sequence number NM_001005741.2