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Table 2 MBOAT7 variants published to date associated with autosomal recessive neurodevelopmental disorder

From: Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Publications

Number of individuals

Number of families

Origin

Transcript

gDNA position [hg38]

cDNA position

Predicted Protein change

Exon

Type

gnomAD frequency (All)

Present paper

7

2

Pakistan

NM_024298.3

g.54180849_54180869del21

c.758_778del

p.Glu253_Ala259del

6

Inframe deletion

0.00002333

Johansen et al (2016)

5

2

Pakistan

NM_024298.3

g.54180849_54180869del21

c.758_778del

p.Glu253_Ala259del

6

Inframe deletion

0.00002333

Johansen et al (2016) [7]

4

1

Pakistan

NM_024298.3

g.54180801_54180807delGGCCGCC

c.820_826del

p.Gly274Profs*47

6

Frameshift

ā€“

Johansen et al (2016) [7]

3

1

Egypt

NM_024298.3

g.54188278_54188297del20

c.126_145del

p.Leu43Hisfs*69

3

Frameshift

ā€“

Johansen et al (2016) [7]

2

1

Jordan

NM_024298.3

g.54183591delC

c.423delG

p.Leu142Cysfs*8

5

Frameshift

ā€“

Johansen et al (2016) [7]

2

1

Iraq

NM_024298.3

g.54180772Cā€‰>ā€‰G

c.854ā€‰+ā€‰1Gā€‰>ā€‰C

p.?

Intron

Splice

ā€“

Hu et al (2018) [9]

3

1

Iran

NM_024298.3

g.54174394Cā€‰>ā€‰T

c.1069Gā€‰>ā€‰A

p.Gly357Ser

8

Missense

0.00001702

Santos-Cortez et al (2018) [8]

4

1

Pakistan

NM_024298.3

g.54187242delA

c.251delT

p.Leu84Argfs*25

Ā 

Frameshift

ā€“

Yalnizoglu et al (2019) [6]

3

1

Turkey

NM_024298.3

g.54174186Gā€‰>ā€‰A

c.1278Gā€‰>ā€‰A

p.Trp426*

8

Nonsense

ā€“

Yalnizoglu et al (2019) [6]

4

2

Turkey

NM_024298.3

g.54162440_54174072del

c.?

p.?

8

Deletion

ā€“

Yalnizoglu et al (2019) [6]

2

1

Turkey

NM_024298.3

g.54187234Cā€‰>ā€‰T

c.259Cā€‰>ā€‰T

p.Arg87Gln

4

Missense

0.00001108

Yalnizoglu et al (2019) [6]

2

2

Turkey

NM_024298.3

g.54180936_54180946del

c.680_690del

p.Leu227Profs*65

6

Frameshift

0.000004919

Yalnizoglu et al (2019) [6]

1

1

Turkey

NM_024298.3

g.54174337Cā€‰>ā€‰T

c.1126Gā€‰>ā€‰A

p.Glu376Lys

8

Missense

0.00003211

Jacher et al. (2019) [10]

1

1

Lebanon

NM_024298.3

g.54178943ā€‰Tā€‰>ā€‰C

c.855-2Aā€‰>ā€‰G

p.?

Intron

Splice

ā€“