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Table 2 Domain distribution of functional relevant nsSNPs

From: Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133)

 

AA

Inspected nsSNPs

±2SD

n

n

n (% inspected nsSNPs)

Whole receptor

874

107

23 (21.5)

N terminus

570

76

17 (22.4)

PTX

111

15

3 (20.0)

GAIN

295

43

9 (20.9)

7TM

243

21

4 (19.0)

C terminus

61

10

2 (20.0)

  1. Exclusion of stop and frameshift mutants
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BMC Genomics

ISSN: 1471-2164

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