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Table 1 Mutations identified in Czech LGMD2A probands

From: Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

No.

Mutations (cDNA level)

Mutations (protein level)

1 - 23

c.550delA/c.550delA

p.(Thr184Argfs*36)/p.(Thr184Argfs*36)

24, 25

c.550delA/c.245C > T

p.(Thr184Argfs*36)/p.(Pro82Leu)

26

c.550delA/c.328C > T

p.(Thr184Argfs*36)/p.(Arg110*)

27

c.550delA/c.509A > G

p.(Thr184Argfs*36)/p.(Tyr170Cys)

28

c.550delA/c.598_612del

p.Thr184Argfs*36/p.Phe200_Leu204del

29

c.550delA/c.1043delG

p.(Thr184Argfs*36)/p.(Gly348Valfs*4)

30

c.550delA/c.1069C > T

p.(Thr184Argfs*36)/p.(Arg357Trp)

31

c.550delA/c.1451T > C

p.(Thr184Argfs*36)/p.(Leu484Pro)

32

c.550delA/c.1465C > T

p.(Thr184Argfs*36)/p.(Arg489Trp)

33, 34

c.550delA/c.1468C > T

p.Thr184Argfs*36/p.(Arg490Trp)

35

c.550delA/c.1470delG

p.(Thr184Argfs*36)/p.(Arg490Argfs*6)

36, 37

c.550delA/c.1722delC

p.Thr184Argfs*36/p.Ser575Leufs*20

38

c.550delA/c.1823G > A

p.(Thr184Argfs*36)/p.(Arg608Lys)

39

c.550delA/c.1981delA

p.Thr184Argfs*36/p.Ile661*

40

c.550delA/c.2245A > C

p.(Thr184Argfs*36)/p.(Asn749His)

41

c.1A > G/c.865C > T

p.(Met1Val)/p.(Arg289Trp)

42

c.133G > A/c.133G > A

p.Ala45Thr/p.Ala45Thr

43

c.146G > A/c.1069C > T

p.(Arg49His)/p.(Arg357Trp)

44

c.224A > G/c.224A > G

p.Tyr75Cys/p.Tyr75Cys

45

c.245C > T/c.245C > T

p.Pro82Leu/p.Pro82Leu

46

c.245C > T/c.1800 + 1G > A

p.(Pro82Leu)/splicing

47

c.245C > T/c.1855C > T

p.(Pro82Leu)/p.(Gln619*)

48

c.245C > T/c.2314_2317del

p.Pro82Leu/p.Asp772Asnfs*3

49

c.509A > G/c.509A > G

p.(Tyr170Cys)/p.(Tyr170Cys)

50

c.598_612del/c.598_612del

p.(Phe200_Leu204del)/p.(Phe200_Leu204del)

51

c.598_612del/c.640G > A

p.(Phe200_Leu204del)/p.(Gly214Ser)

52

c.598_612del/c.2245A > C

p.Phe200_Leu204del/p.Asn749His

53

c.1043delG/c.1094G > A

p.(Gly348Valfs*4)/p.(Trp365*)

54

c.1043delG/c.1343G > A

p.(Gly348Valfs*4)/p.(Arg448His)

55

c.1194-9A > G/c.1800 + 1G > A

splicing/splicing

56

c.1194-9A > G/c.2393C > A

splicing/p.(Ala798Glu)

57

c.1250C > T/c.1250C > T

p.(Thr417Met)/p.(Thr417Met)

58

c.1322G > A/c.1322G > A

p.Gly441Asn/p.Gly441Asn

59

c.1322delG/c.2114A > G

p.(Gly441Valfs*22)/p.(Asp705Gly)

60

c.1343G > A/c.2093G > A

p.(Arg448His)/p.(Arg698His)

61

c.1468C > T/c.2314_2317del

p.(Arg490Trp)/p.(Asp772Asnfs*3)

62

c.1788_1793del/c.2242C > T

p.Lys597_Lys598del/p.Arg748*

63 - 66

c.598_612del/c.1746-20C > G

p.(Phe200_Leu204del)/splicing

67

c.614T > C/c.1746-20C > G

p.(Leu205Pro)/splicing

68, 69

c.550delA/-

p.(Thr184Argfs*36)/-

70, 71

c.598_612del/-

p.(Phe200_Leu204del)/-

  1. Mutations in bold letters were detected only in Czech LGMD2A patients.