Table 1

Coding sequence variants in the two genes and SIFT analysis

Coordinate

Alleles

Gene

Codon changea

Amino acid change

dbSNP

Coding type

SIFT prediction

SIFT score

MAF

Number observed


Chr1_46643348

C/A

FAAH

CCA-aCA

P129T

rs324420

Non-synonymous

Tolerated

0.46

0.216

123

Chr1_46643944

G/A

FAAH

GGG-aGG

G226R

Novel

Non-synonymous

Tolerated

0.15

0.002

1

Chr1_46643960

C/T

FAAH

CCC-CtC

P231L

Novel

Non-synonymous

Tolerated

0.63

0.002

1

Chr1_46643996

G/A

FAAH

CGC-CaC

R243H

Novel

Non-synonymous

Damaging

0

0.003

2

Chr1_46644333

G/A

FAAH

GAG-GAa

E274E

Novel

Synonymous

Tolerated

0.96

0.052

30

Chr1_46644573

T/C

FAAH

TGT-TGc

C299C

rs324419

Synonymous

Tolerated

1

0.176

101

Chr1_46646834

G/A

FAAH

GCG-GCa

A356A

rs45476901

Synonymous

Tolerated

1

0.002

1

Chr3_128893754

C/T

MGLL

GCA-aCA

A307T

Novel

Non-synonymous

Tolerated

0.55

0.003

2

Chr3_128893854

A/C

MGLL

ATT-ATg

I273M

Novel

Non-synonymous

Tolerated

0.13

0.002

1

Chr3_128896571

T/C

MGLL

CTA-CTg

L251L

rs4881

Synonymous

Tolerated

1

0.073

42

Chr3_128922669

C/T

MGLL

GCA-aCA

A143T

Novel

Non-synonymous

Tolerated

0.36

0.002

1

Chr3_128983328

C/T

MGLL

GAC-aAC

D86N

Novel

Non-synonymous

Damaging

0

0.002

1

Chr3_129023325

C/T

MGLL

CGG-CGa

R19R

rs11538698

Synonymous

Tolerated

0.86

0.052

30

Chr3_129023335

G/A

MGLL

TCC-TtC

S16F

Novel

Non-synonymous

Damaging

0.01

0.002

1


aChanging nucleotide indicated as lower case.

Harismendy et al. Genome Biology 2010 11:R118   doi:10.1186/gb-2010-11-11-r118

Open Data