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Table 5 Nucleotide positions divergent between GBA and ΨGBA

From: Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

   nucleotide positiona
gene sequence 6844 7031 7159 7183 7192 7319 7354 7368
GBA patient 4 Gb A/G C - T T G G
  patient 9 G A/G C - T T G G
  patient 11 G A/G C - C/T T G G
  patient 14 G G C - T T G G
  patient 17 G A/G C - T T G G
  patient 27 G A/G C - T T G G
  NA11215 G A/G C - T T G G
  Gen-4.87 G G C G T T G G
  UCSC G A C - T T G G
ΨGBA patient 4 C G C/T - C C G/C G/C
  patient 9 C G T - C C G/C G/C
  patient 11 C G C/T - C C G/C G/C
  patient 14 C G C/T - C C G/C G/C
  patient 17 C G T - C C C C
  patient 27 C G T - C C C C
  NA11215 C A/G T - C C C C
  Gen-4.87 C A T - C C C C
  UCSC C G T - C C C C
  1. aNucleotide positions are consistent with reference sequence [GenBank:J03059.1] (which is equivalent to that reported by the UCSC database for the region in question).[16] All nucleotides not listed displayed perfect identity between all nine sequences in the alignment.
  2. bNucleotide designations are G (guanosine), C (cytosine), T (thymidine), and A (adenosine). Observed heterozygous nucleotide positions are indicated as A/G, C/T, or G/C.