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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.
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BMC Medical Genetics

ISSN: 1471-2350

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