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Table 2 MAN2B1 mutations and genotype/subcellular localisation subgroups for all patients

From: Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

 

Allele 1

Allele 2

Localisation

Genotype group10/subcellular localisation subgroups

Family number

Label cDNA

Label Protein

Label cDNA

Label Protein

1A1

c.164G>T

p.(Cys55Phe)

c.599A>T

p.(His200Leu)

Exon 2 / Exon 4

3

1B1

c.164G>T

p.(Cys55Phe)

c.599A>T

p.(His200Leu)

Exon 2 / Exon 4

3

2

c.231G>A

p.(Trp77Ter)

c.2398G>C

p.(Gly800Arg)

Exon 2 / Exon 20

2*

3

c.283G>C

p.(Ala95Pro)

c.283G>C

p(.Ala95Pro)

Exon 3 / Exon 3

2

4

c.283G>C

p.(Ala95Pro)

c.283G>C

p.(Ala95Pro)

Exon 3 / Exon 3

2

5

c.304G>A

p.(Asp102Asn)

c.2885G>A

p.(Arg962His)

Exon 3 / Exon 23

3

6

c. 338_348dup11

p.(Ile117ProfsTer44)

c. 338_348dup11

p.(Ile117ProfsTer44)

Exon 3 / Exon 3

1

7

c.383G>A

p.(Trp128Ter)

c.383G>A

p.(Trp128Ter)

Exon 3 / Exon 3

1*

8

c.418C>T

p.(Arg140Ter)

c.418C>T

p.(Arg140Ter)

Exon 3 / Exon 3

1

9A2

c.458G>T

p.(Gly153Val)

c.[1230+5G>A;c.2248C>T]

p.[?; Arg750Trp]

Exon 4 / Intron 9

3

9B2

c.458G>T

p.(Gly153Va) l

c.[1230+5G>A; c.2248C>T] 11

p.[?; Arg750Trp]

Exon 4 / Intron 9

3

10

c.590C>G

p.(Pro197Arg)

c.2724G>A

p.(Trp908Ter)

Exon 4 / Exon 22

2*

11

c.598C>A

p.(His200Asn)

c.1548delT

p.(Leu518TrpfsTer5)

Exon 4 / Exon 13

3*

12

c.685C>T

p.(Arg229Trp)

c.2439_2444dup6

p.(His814_Arg815dup)

Exon 5 / Exon 21

3*

13

c.783C>A

p.(Tyr261Ter)

c.783C>A

p.(Tyr261Ter)

Exon 6 / Exon 6

1

14

c.788C>T

p.Pro263Leu

c.2355G>A

p.(Arg757MetfsTer6)

Exon 6 / Exon 19

3

15

c.809dupA

p.(Asp270GlufsTer54)

c.2675dupT

p.(Arg893AlafsTer38)

Exon 6 / Exon 22

1

16

c.812_813dupTG

p.(Leu272CysfsTer27)

c.812_813dupTG

p.(Leu272CysfsTer27)

Exon 6 / Exon 6

1

17

c.909+731del6272

p.Gly304del245

c.953C>T

p.Ser318Leu

Intron 6-13 / Exon 7

3

18

c.1026+2 T>G

p.[Val339_Ala341del; p.Val339_Gln342del]

c.1830+1G>C

p.Val549_Glu610del

Intron 7 / Intron 14

2

19

c.1047_1048dupCC

p.(His350ProfsTer15)

c.2248C>T

p.Arg750Trp

Exon 8 / Exon 18

2

20A3

c.1055 T>C

p.(Leu352Pro)

c.1055 T>C

p.(Leu352Pro)

Exon 8 / Exon 8

2

20B3

c.1055 T>C

p.(Leu352Pro)

c.1055 T>C

p.(Leu352Pro)

Exon 8 / Exon 8

2

21

c.1152_1153dupCC

p.(His385ProfsTer93)

c.1831-2A>G

p.His611GlyfsTer3

Exon 9 / Intron 14

1

22

c.1152_1153dupCC

p.(His385ProfsTer93)

c.1152_1153dupCC

p.His385ProfsTer93

Exon 9 / Exon 9

1

23

c.1310-2A>G

p.(?)

c.2248C>T

p.Arg750Trp

Intron 10 / Exon 18

2

24

c.1333C>T

p.(His445Tyr)

c.1333C>T

p.(His445Tyr)

Exon 11 / Exon 11

2

25

c.1351G>T

p.(Gly451Cys)

c.[1501 T>A; 2849G>C] 11

p.([Cys501Ser; Arg950Pro])

Exon 11 / Exon 12

3

26A4

c.1358C>T

p.(Ser453Phe)

c.1358C>T

p.(Ser453Phe)

Exon 11 / Exon 11

2

26B4

c.1358C>T

p.(Ser453Phe)

c.1358C>T

p.(Ser453Phe)

Exon 11 / Exon 11

2

27A5

c.1370 T>A

p.(Val457Glu)

c.2248C>T

p.Arg750Trp

Exon 11 / Exon 18

3*

27B5

c.1370 T>A

p.(Val457Glu)

c.2248C>T

p.Arg750Trp

Exon 11 / Exon 18

3*

28A6

c.1383C>A

p.(Tyr461Ter)

c.2402dupG

p.(Ser802GlnfsTer129)

Exon 11 / Exon 20

1*

28B6

c.1383C>A

p.(Tyr461Ter)

c.2402dupG

p.(Ser802GlnfsTer129)

Exon 11 / Exon 20

1*

29

c.1388_1389delGC

p.(Arg463ProfsTer53)

c.2426 T>C

p.Leu809Pro

Exon 11 / Exon 20

2*

30

c.1527+1G>C

p.(?)

c.1527+1G>C

p.(?)

Intron 12 / Intron 12

1*

31A7

c.1816delA

p.Thr606ProfsTer18

c.1830+1G>C

p.Val549_Glu610del

Exon 14 / Intron 14

1

31B7

c.1816delA

p.Thr606ProfsTer18

c.1830+1G>C

p.Val549_Glu610del

Exon 14 / Intron 14

1

32

c.1830+1G>A

p.(?)

c.2248C>T

p.Arg750Trp

Intron 14 / Exon 18

2

33

c.1830+1G>C

p.Val549_Glu610del

c.1830+1G>C

p.Val549_Glu610del

Intron 14 / Intron 14

1

34

c.1830+1G>C

p.Val549_Glu610del

c.2248C>T

p.Arg750Trp

Intron 14 / Exon 18

2

35

c.1830+1G>C

p.Val549_Glu610del

c.2426 T>C

p.Leu809Pro

Intron 14 / Exon 20

2

36

c.1830+1G>C

p.Val549_Glu610del

c.2248C>T

p.Arg750Trp

Intron 14 / Exon 18

2

37A8

c.1831-2A>G

p.His611GlyfsTer3

c.1831-2A>G

p.His611GlyfsTer3

Intron 14 / Intron 14

1

37B8

c.1831-2A>G

p.His611GlyfsTer3

c.1831-2A>G

p.His611GlyfsTer3

Intron 14 / Intron 14

1

38

c.2234C>G

p.(Thr745Arg)

c.2234C>G

p.Thr745Arg

Exon 18 / Exon 18

3

39A9

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

39B9

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

40

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

41

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

42

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

43

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

44

c.2248C>T

p.Arg750Trp

c.2299C>T

p.Gln767Ter

Exon 18 / Exon 19

2*

45

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2

46

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2*

47

c.2248C>T

p.Arg750Trp

c.2426 T>C

p.Leu809Pro

Exon 18 / Exon 20

2*

48

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2

49

c.2248C>T

p.Arg750Trp

c.2426 T>C

p.Leu809Pro

Exon 18 / Exon 20

2

50

c.2248C>T

p.Arg750Trp

c.2251G>T

p.(Glu751Ter)

Exon 18 / Exon 20

2*

51

c.2248C>T

p.Arg750Trp

c.2248C>T

p.Arg750Trp

Exon 18 / Exon 18

2

52

c.2355G>A

p.Arg757MetfsTer6

c.2355G>A

p.(Arg757MetfsTer6)

Exon 19 / Exon 19

1

53

c.2398G>T

p.(Gly800Trp)

c.2944_2947delCCGT

p.(Pro982ThrfsTer50)

Exon 20 / Exon 24

2

54

c.2436+5G>A

p.Glu786_Met812del

c.2887delG

p.(Glu963ArgfsTer70)

Intron 20 / Exon 23

1

55

c.2724G>A

p.(Trp908Ter)

c.2724G>A

p.(Trp908Ter)

Exon 22 / Exon 22

1

56

c.2920dupA

p.(Thr974AsnfsTer81)

c.2920dupA

p.(Thr974AsnfsTer81)

Exon 23 / Exon 23

1*

57

c.2921_2922delCA

p.(Thr974ArgfsTer80)

c.2921_2922delCA

p.(Thr974ArgfsTer80)

Exon 23 / Exon 23

1

  1. Mutations are labelled according to HGVS recommendations (http://www.hgvs.org/mutnomen/) using the MAN2B1 coding DNA reference sequence NM_000528.3, where position +1 corresponds to A in the first ATG translation initiation codon. Novel mutations are in bold. Protein labels are in parentheses if the variant has not been studied on RNA or protein level.
  2. 1-9Sibship 1-9, 10Subgroup 1: Two null-mutations (nonsense, frameshift, large truncations), subgroup 2: At least one missense mutation (or in-frame deletion/duplication of 1-5 amino acids) with the MAN2B1 protein localised to the endoplasmic reticulum (ER) (ie: ER/ER, ER/null), subgroup 3: At least one missense mutation (or in-frame deletion/duplication of 1-5 amino acids) with the MAN2B1 protein localised to the lysosomes (lyso) (ie: lyso/lyso, lyso/ER, lyso/null)
  3. *Incomplete or no parental sequencing data available