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Table 1 MMACHC gene variants for 126 pedigrees

From: Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

No.

cDNA change

Amino acid change

Exon

Effect

Frequency

Percentage

1

c.1A > G

p.Met1Val

1

missense variant

1

0.40%

2

c.80A > G

p.Gln27Arg

1

missense variant

15

5.95%

3

c.81 + 1G > A

splicing region

intron1

splicing variant

1

0.40%

4

c.217C > T

p.Arg73Ter

2

nonsense variant

10

3.97%

5

c.271dupA

p.Arg91Lysfs*14

2

frameshift variant

2

0.79%

6

c.315C > G

p.Tyr105Ter

3

nonsense variant

1

0.40%

7

c.328_331delAACC

p.Asn110Aspfs*13

3

frameshift variant

1

0.40%

8

c.331C > T

p.Arg111Ter

3

nonsense variant

2

0.79%

9

c.365A > T

p.His121Leu

3

missense variant

1

0.40%

10

c.394C > T

p.Arg132Ter

3

nonsense variant

6

2.38%

11

c.440_441delGT

p.Cys149Hisfs*32

4

frameshift variant

1

0.40%

12

c.445_446delTG

p.Cys149Hisfs*32

4

frameshift variant

5

1.98%

13

c.445_446insA

p.Cys149Ter

4

frameshift variant

2

0.79%

14

c.445_446delT

p.Cys149Alafs*15

4

frameshift variant

1

0.40%

15

c.463_465delGGG

p.Gly155del

4

deletion variant

1

0.40%

16

c.463G > C

p.G155R

4

missense variant

1

0.40%

17

c.465_467delGGG

p.Gly155del

4

deletion variant

1

0.40%

18

c.467G > A

p.Gly156Ala

4

missense variant

2

0.79%

19

c.481C > T

p.Arg161Ter

4

nonsense variant

5

1.98%

20

c.482G > A

p.Arg161Gln

4

missense variant

11

4.37%

21

c.565C > T

p.Arg189Cys

4

missense variant

1

0.40%

22

c.567dupT

p.Ile190Tyrfs*13

4

frameshift variant

17

6.75%

23

c.599G > A

p.Trp200Ter

4

nonsense variant

1

0.40%

24

c.609G > A

p.Trp203Ter

4

nonsense variant

122

48.41%

25

c.615C > A

p.Tyr205Ter

4

nonsense variant

1

0.40%

26

c.617G > A

p.Arg206Gln

4

missense variant

1

0.40%

27

c.626dupT

p.Thr210Aspfs*35

4

frameshift variant

1

0.40%

28

c.637G>T

p.Glu213Ter

4

nonsense variant

2

0.79%

29

c.658_660delAAG

p.Lys220del

4

deletion variant

34

13.49%

30

c.666C > A

p.Tyr222Ter

4

nonsense variant

1

0.40%

31

c.683C > T

p.Ala228Val

4

missense variant

1

0.40%