Skip to main content

Table 2 MMACHC variants in 112 alleles of 56 patients with late-onset cb1C deficiency

From: Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

MMACHC gene variants*

Phenotypes

PMID

References

No.

Nucleotide change

Protein change

n

%

Neuropsychiatric diseases

Cardiovascular diseases

Renal diseases

Others

n

%

n

%

n

%

n

%

1

c.482G > A

p.R161Q

41

36.6

39

34.8

3

2.7

1

0.9

11

9.8

20631720

[3]

2

c.609G > A

p.Trp203Ter

18

16.1

11

9.8

7

6.3

5

4.5

7

6.3

20631720

[3]

3

c.658_660delAAG

p.K220del

11

9.8

11

9.8

1

0.9

0

0

1

0.9

20631720

[3]

4

c.80A > G

p.Gln27Arg

9

8.0

2

1.8

8

7.1

4

3.6

4

3.6

20631720

[3]

5

c.567dupT

P.Ile190Tyrfs*13

7

6.3

7

6.3

0

0

0

0

1

0.9

30157807

[31]

6

c.394C > T

p.Arg132Ter

4

3.6

4

3.6

0

0

0

0

2

1.8

20631720

[3]

7

c.315C > G

p.Tyr105Term

2

1.8

2

1.8

1

0.9

0

0

2

1.8

20631720

[3]

8

c.217C > T

p.Arg73Term

2

1.8

1

0.9

0

0

0

0

2

1.8

16311595

[20]

9

c.615C > A

p.Tyr205Ter

2

1.8

2

1.8

0

0

0

0

1

0.9

20631720

[3]

10

c.444_445delTG/c.445_446delTG

p.C149Hfs*32

2

1.8

2

1.8

0

0

1

0.9

0

0

32943488

[22]

11

c.365A > T

p.His122Leu

2

1.8

1

0.9

1

0.9

0

0

0

0

20631720

[3]

12

Exon 1 del

Exon 1 deletion

2

1.8

2

1.8

0

0

0

0

1

0.9

31278756

[32]

13

c.626dup

p.Thr210fs

1

0.9

0

0

1

0.9

0

0

1

0.9

20631720

[3]

14

c.452A > G

p.His151Arg

1

0.9

1

0.9

0

0

0

0

0

0

20631720

[3]

15

c.656_658delAGA

p.K220Rfs*71

1

0.9

1

0.9

0

0

0

0

0

0

30863077

[5]

16

c.427C > T

p.Gln143Ter

1

0.9

1

0.9

0

0

0

0

0

0

32943488

[22]

17

c.467G > A

p.Gly156ASp

1

0.9

1

0.9

0

0

0

0

0

0

16311595

[20]

18

c.637G > T

p.Glu637Ter

1

0.9

1

0.9

0

0

0

0

0

0

30157807

[31]

19

c.565C > T

p.Arg189Cys

1

0.9

1

0.9

0

0

0

0

0

0

31279840

[19]

20

c.347T > C

p.Leu116Pro

1

0.9

1

0.9

0

0

0

0

0

0

16311595

[20]

21

c.600G > A

p.Trp200Term

1

0.9

1

0.9

0

0

0

0

0

0

16311595

[20]

Total

111

99.1

          
  1. *The reference for the transcripts was NM_015506.2. 112 alleles were involved in 56 patients. One patient had a c.609G > A variant in MMACHC and c.515-48_515-47insTT in PRDX1